A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male c...
Gespeichert in:
| Veröffentlicht in: | Genes & Genetic Systems Jg. 98; H. 4; S. 171 - 178 |
|---|---|
| Hauptverfasser: | , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
Japan
The Genetics Society of Japan
01.08.2023
Japan Science and Technology Agency |
| Schlagworte: | |
| ISSN: | 1341-7568, 1880-5779, 1880-5779 |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| Abstract | Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth were sharp, but eight teeth were missing (oligodontia). The patient had normal nails with dry skin, sparse hair, everted lower lip vermilion, hyperpigmented eyelids, and abnormal nasal bridge morphology around the eyes. There is also a homozygous dominant (healthy) female and a heterozygous male in this family, who are cousins (aunt children) to the heterozygous parents. The daughter of the patient was also heterozygous. This mutation represents homozygous recessive inheritance, which we describe for the first time. Furthermore, we demonstrated that this genetic disorder can be readily diagnosed using the restriction fragment length polymorphism (RFLP) method after digestion with MnII restriction endonuclease. |
|---|---|
| AbstractList | Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth were sharp, but eight teeth were missing (oligodontia). The patient had normal nails with dry skin, sparse hair, everted lower lip vermilion, hyperpigmented eyelids, and abnormal nasal bridge morphology around the eyes. There is also a homozygous dominant (healthy) female and a heterozygous male in this family, who are cousins (aunt children) to the heterozygous parents. The daughter of the patient was also heterozygous. This mutation represents homozygous recessive inheritance, which we describe for the first time. Furthermore, we demonstrated that this genetic disorder can be readily diagnosed using the restriction fragment length polymorphism (RFLP) method after digestion with MnII restriction endonuclease. Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth were sharp, but eight teeth were missing (oligodontia). The patient had normal nails with dry skin, sparse hair, everted lower lip vermilion, hyperpigmented eyelids, and abnormal nasal bridge morphology around the eyes. There is also a homozygous dominant (healthy) female and a heterozygous male in this family, who are cousins (aunt children) to the heterozygous parents. The daughter of the patient was also heterozygous. This mutation represents homozygous recessive inheritance, which we describe for the first time. Furthermore, we demonstrated that this genetic disorder can be readily diagnosed using the restriction fragment length polymorphism (RFLP) method after digestion with MnII restriction endonuclease.Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth were sharp, but eight teeth were missing (oligodontia). The patient had normal nails with dry skin, sparse hair, everted lower lip vermilion, hyperpigmented eyelids, and abnormal nasal bridge morphology around the eyes. There is also a homozygous dominant (healthy) female and a heterozygous male in this family, who are cousins (aunt children) to the heterozygous parents. The daughter of the patient was also heterozygous. This mutation represents homozygous recessive inheritance, which we describe for the first time. Furthermore, we demonstrated that this genetic disorder can be readily diagnosed using the restriction fragment length polymorphism (RFLP) method after digestion with MnII restriction endonuclease. |
| ArticleNumber | 22-00138 |
| Author | Rencuzogullari, Eyyup Ezer, Banu Guven |
| Author_xml | – sequence: 1 fullname: Rencuzogullari, Eyyup organization: Department of Biology, Science and Letters Faculty, Adiyaman University – sequence: 1 fullname: Ezer, Banu Guven organization: Department of Biology, Institute of Graduate Education, Adiyaman University |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37673591$$D View this record in MEDLINE/PubMed |
| BookMark | eNpdkk1v1DAQhiNURD_gxhlZ4sKBFH8kTnwsFV9SJS7lbE2cSeIlsYPtbbX_kJ-Ft9vdAxd7NPO8MyPNe1mcOe-wKN4yes24lJ_GMV5zXlLKRPuiuGBtS8u6adRZjkXFyqaW7XlxGeOGUk5VK14V56KRjagVuyj-3hCHj-QBggWXiB9ImpCgSb7fxXWGaB25IQENrskH0iOkifR-gZwf0SGBGL2xkLAnjzbXwE22Dz5Zc-iCYYGZHJsByTog99vw28aJDLDYeZc1PbEpkmiXdUbSWxidjzaSbpdHxxSsSdY7MgQYF8xrzujGPGv1827xYZ1sXF4XLweYI755_q-KX1-_3N9-L-9-fvtxe3NXmkqKVMpBMjnQXslaMma4MFU1MIY8RzXWDRWdYIAVZzV0Erva9ExxCZXqFGcVE1fFh0PfNfg_27ycXmw0OM_g0G-j5q3kTKmGiYy-_w_d-G1weTvNFWWqaXizp949U9tuwV6vwS4Qdvp4owx8PAAm-BgDDieEUb23gM4W0JzrJwtk_PMB38QEI55gCPkmMz7BqtXV_jmKTkUzQdDoxD8tBL79 |
| Cites_doi | 10.1111/j.1365-263X.2006.00801.x 10.1038/414913a 10.1002/ajmg.1320310106 10.1002/ajmg.a.10929 10.1093/nar/gky1016 10.1016/j.jmoldx.2011.07.008 10.1111/j.1525-1470.1988.tb01162.x 10.1038/gim.2015.30 10.1086/301984 10.1016/S1607-551X(09)70303-1 10.1002/ajmg.a.37607 10.1136/jmg.18.6.459 10.3390/genes12091389 10.1177/0022034513487210 10.1002/ajmg.a.37412 10.1002/humu.20500 10.1016/S1472-6483(11)60543-9 10.1038/s41586-020-2308-7 10.1038/11937 10.1016/j.ijporl.2013.06.027 10.1093/nar/gkx1153 10.1038/jhg.2016.75 10.1159/000346610 10.1111/ced.12248 10.1177/0022034513487557 10.1002/ajmg.a.32855 10.1136/jmg.12.3.308 10.3892/ijmm.2016.2742 10.1016/S0960-9822(02)00687-5 10.1002/humu.21384 10.1159/000251442 10.1111/j.1365-2133.2010.09670.x 10.14715/cmb/2017.63.8.12 10.1007/s10875-013-9924-z 10.1182/blood-2011-05-354167 10.1093/hmg/ddi405 10.1111/j.1601-6343.2010.01484.x 10.1016/j.gene.2011.10.009 10.1111/j.1440-0960.2010.00685.x 10.1002/humu.22271 10.1016/j.jaad.2005.10.002 10.1016/S1695-4033(02)77793-X 10.1111/1346-8138.12077 10.1016/j.smim.2014.05.002 10.1016/j.ijporl.2013.09.004 10.1111/jdv.12493 10.1186/s13023-019-1251-x 10.1182/blood-2003-10-3655 10.1111/bjd.12151 10.1002/ajmg.a.33164 |
| ContentType | Journal Article |
| Copyright | 2023 The Author(s). 2023. This work is published under https://creativecommons.org/licenses/by/4.0/legalcode (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
| Copyright_xml | – notice: 2023 The Author(s). – notice: 2023. This work is published under https://creativecommons.org/licenses/by/4.0/legalcode (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 7SS 7TK 8FD FR3 K9. NAPCQ P64 RC3 7X8 |
| DOI | 10.1266/ggs.22-00138 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Entomology Abstracts (Full archive) Neurosciences Abstracts Technology Research Database Engineering Research Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Entomology Abstracts Nursing & Allied Health Premium Genetics Abstracts Technology Research Database ProQuest Health & Medical Complete (Alumni) Engineering Research Database Neurosciences Abstracts Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic Entomology Abstracts |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1880-5779 |
| EndPage | 178 |
| ExternalDocumentID | 37673591 10_1266_ggs_22_00138 article_ggs_98_4_98_22_00138_article_char_en |
| Genre | Journal Article |
| GroupedDBID | --- -~X .55 29H 2WC 36B 53G 5GY ACGFO ACPRK ADBBV AENEX AHMBA ALMA_UNASSIGNED_HOLDINGS BAWUL BKOMP CS3 DIK DU5 E3Z EBD EBS EJD EMB EMOBN F5P GROUPED_DOAJ GX1 JMI JSF JSH KQ8 L7B MOJWN OK1 OVT PQQKQ RJT RNS RZJ SV3 TR2 W2D X7M XSB AAYXX CITATION CGR CUY CVF ECM EIF NPM 7SS 7TK 8FD FR3 K9. NAPCQ P64 RC3 7X8 |
| ID | FETCH-LOGICAL-c463t-6f616f0d965611c23c44f11e223c5e5703b31ae4215ab6eb5cd1926a49b921413 |
| ISICitedReferencesCount | 1 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=001072006300001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1341-7568 1880-5779 |
| IngestDate | Thu Oct 02 11:30:55 EDT 2025 Tue Oct 07 06:27:16 EDT 2025 Mon Jul 21 05:52:20 EDT 2025 Sat Nov 29 06:43:46 EST 2025 Wed Sep 03 06:30:47 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 4 |
| Keywords | EDARADD new mutation anhidrotic MnII restriction endonuclease ectodermal dysplasia |
| Language | English |
| License | https://creativecommons.org/licenses/by/4.0/legalcode |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c463t-6f616f0d965611c23c44f11e223c5e5703b31ae4215ab6eb5cd1926a49b921413 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
| OpenAccessLink | http://dx.doi.org/10.1266/ggs.22-00138 |
| PMID | 37673591 |
| PQID | 2901977273 |
| PQPubID | 1996350 |
| PageCount | 8 |
| ParticipantIDs | proquest_miscellaneous_2862199713 proquest_journals_2901977273 pubmed_primary_37673591 crossref_primary_10_1266_ggs_22_00138 jstage_primary_article_ggs_98_4_98_22_00138_article_char_en |
| PublicationCentury | 2000 |
| PublicationDate | 2023/08/01 |
| PublicationDateYYYYMMDD | 2023-08-01 |
| PublicationDate_xml | – month: 08 year: 2023 text: 2023/08/01 day: 01 |
| PublicationDecade | 2020 |
| PublicationPlace | Japan |
| PublicationPlace_xml | – name: Japan – name: Mishima |
| PublicationTitle | Genes & Genetic Systems |
| PublicationTitleAlternate | Genes Genet. Syst. |
| PublicationYear | 2023 |
| Publisher | The Genetics Society of Japan Japan Science and Technology Agency |
| Publisher_xml | – name: The Genetics Society of Japan – name: Japan Science and Technology Agency |
| References | Mikkola, M. L. (2009) Molecular aspects of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. A 149A, 2031–2036. Norval, E. J., van Wyk, C. W., Basson, N. J., and Coldrey, J. (1988) Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study. Pediatr. Dermatol. 5, 159–166. Feng, H.-l., Zhang, X.-x., and Wu, H. (2007) Research advances in tooth agenesis. Journal of Peking University, Health sciences 39, 13–17 (in Chinese). Ersoy-Evans, S., Erkin, G., Fassihi, H., Chan, I., Paller, A. S., Sürücü, S., and McGrath, J. A. (2006) Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J. Am. Acad. Dermatol. 55, 157–161. Sun, X., Shen, J., Wu, W., Xie, J., Gao, C., Qin, L., Cui, Y., and Liu, J. (2013) Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. Chinese journal of medical genetics 30, 270–273 (in Chinese). Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 32, 70–72. Barbaro, V., Confalonieri, L., Vallini, I., Ferrari, S., Ponzin, D., Mantero, G., Willoughby, C. E., Parekh, M., and Di Iorio, E. (2012) Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. J. Mol. Diagn. 14, 38–45. Bibi, N., Ahmad, S., Ahmad, W., and Naeem, M. (2011) Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia. Australas J. Dermatol. 52, 37–42. Wohlfart, S., Söder, S, Smahi, A., and Schneider, H. (2016a) A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. A 170A, 249–253. Li, W., Gao, B.-d., Li, L.-y., Xiao, H. M., and Lu, G.-x. (2006) Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family. Chinese journal of medical genetics 23, 618–621 (in Chinese). Baskan, Z., Yavuz, I., Ulku, R., Kaya, S., Yavuz, Y., Basaran, G., Adiguzel, O., and Ozer, T. (2006) Evaluation of ectodermal dysplasia. Kaohsiung J. Med. Sci. 22, 171–176. Martínez-Romero, M. C., Ballesta-Martínez, M. J., López-González, V., Sánchez-Soler, M. J., Serrano-Antón, A. T., Barreda-Sánchez, M., Rodriguez-Peña, L., Martínez-Menchon, M. T., Frías-Iniesta, J., Sánchez-Pedreño, P., et al. (2019) EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J. Rare Dis. 14, 281–291. Lexner, M. O., Bardow, A., Hertz, J. M., Nielsen, L. A., and Kreiborg, S. (2007) Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Int. J. Paediatr. Dent. 17, 10–18. Yan, M., Zhang, Z., Brady, J. R., Schilbach, S., Fairbrother, W. J., and Dixit, V. M. (2002) Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Curr. Biol. 12, 409–413. Chassaing, N., Cluzeau, C., Bal, E., Guigue, P., Vincent, M.-C., Viot, G., Ginisty, D., Munnich, A., Smahi, A., and Calvas, P. (2010) Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br. J. Dermatol. 162, 1044–1048. Liu, Y., Yu, X., Wang, L., Li, C., Archacki, S., Huang, C., Liu, J. Y., Wang, Q., Liu, M., and Tang, Z. (2012) Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family. Gene 491, 246–250. Keng, S. B. (1984) Oro-facial manifestation of hypohidrotic ectodermal dysplasia—case report. Ann. Acad. Med. Singap. 13, 552–555. Chen, L., Zhao, Y.-y., Wei, Y., Wang, Y., Zhang, Y., Wang, Y.-q., Liu, J.-y., Yang, Y., and Tan, Y.-h. (2012) Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities, a case report. Chin. Med. J. 125, 3177–3179. Liu, N., Shi, H.-r., Wu, Q.-h., Jiang, M., and Kong, X.-d. (2013) Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia. Chinese journal of medical genetics 30, 407–409. Monreal, A. W., Zonana, J., and Ferguson, B. (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63, 380–399. Rifai, L., Port-Lis, M., Tabet, A. C., Bailleul-Forestier, I., Benzacken, B., Drunat, S., Kuzbari, S., Passemard, S., Verloes, A., and Aboura, A. (2010) Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am. J. Med. Genet. A 152A, 111–117. Kawai, T., Nishikomori, R., Izawa, K., Murata, Y., Tanaka, N., Sakai, H., Saito, M., Yasumi, T., Takaoka, Y., Nakahata, T., et al. (2012) Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood 119, 5458–5466. Callea, M., Teggi, R., Yavuz, I., Tadini, G., Priolo, M., Crovella, S., Clarich, G., and Grasso, D. L. (2013) Ear nose throat manifestations in hypoidrotic ectodermal dysplasia. Int. J. Pediatr. Otorhinolaryngol. 77, 1801–1804. Nishikomori, R., Akutagawa,H., Maruyama, K., Nakata-Hizume, M., Ohmori, K., Mizuno, K., Yachie, A., Yasumi, T., Kusunoki, T., Heike, T., et al. (2004) X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 103, 4565–4572. Nikopensius, T., Annilo, T., Jagomägi, T., Gilissen, C., Kals, M., Krjutškov, K., Mägi, R., Eelmets, M., Gerst-Talas, U., Remm, M., et al. (2013) Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). J. Dent. Res. 92, 507–511. Aydin, M., Rencuzogullari, E., Bayram, S., Sevgiler, Y., and Genc, A. (2017) Alterations on high HbF levels may be associated with KLF1 gene mutations. Cell. Mol. Biol. 63, 51–57. Farooq, M., Kurban, M., Fujimoto, A., Fujikawa, H., Abbas, O., Nemer, G., Saliba, J., Sleiman, R., Tofaili, M., Kibbi, A.-G., et al. (2013) A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Hum. Mutat. 34, 578–581. Mousumi, T., Xiong, Z., Lu, L., Liu, S., Xia, K., and Hu, Z. (2013) Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. Journal of Central South University, Medical sciences 38, 761–765. Yin, W., Ye, X., and Bian, Z. (2013) The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree. Dermatology 226, 105–110. Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., and Kircher, M. (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 47, D886–D894. Rodewald, A., and Zahn-Messow, K. (1982) Dermatoglyphics findings in families with X-linked hypohidrotic (or anhidrotic) ectodermal dysplasia (HED). Prog. Clin. Biol. Res. 84, 451–458. Schindler, A., Guazzarotti, L., Mameli, C., Urbani, E., Mozzanica, F., Guerrini, L., and Zuccotti, G. V. (2013) Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27). Int. J. Pediatr. Otorhinolaryngol. 77, 1606–1608. Chaudhary, A. K., Girisha, K. M., and Bashyam, M. D. (2016) A novel EDARADD 5’-splice site mutation resulting in activation of two alternate cryptic 5’-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. Am. J. Med. Genet. A 170, 1639–1641. Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., Saleh-Gohari, N., Baghestani, S., Krawitz, P. M., Hecht, J., and Mundlos, S. (2013) Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. Br. J. Dermatol. 168, 1353–1356. Potter, P. C., and Bowie, M. D. (1984) Dysphagia in hypohidrotic ectodermal dysplasia. A case report. S. Afr. Med. J. 66, 232–234. Yang, Y., Luo, L., Xu, J., Zhu, P., Xue, W., Wang, J., Li, W., Wang, M., Cheng, K., Liu, S., et al. (2013) Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia. J. Dent. Res. 92, 500–506. Hayashi, R., Farooq, M., Fujikawa, H., Fujimoto, A., Hashimoto, T., Ito, M., and Shimomura, Y. (2013) Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene. J. Dermatol. 40, 281–283. Shi, H.-j., Fang, Q., and Wang, L.-t. (2005) Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion. Chin Med. J. 85, 1845–1848 (in Chinese). Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424. Segurado Rodríguez, M. A., Ortiz De Frutos, F. J, Cornejo Navarro, P., Rodríguez Peralto, J. L., Sánchez Del Pozo, J., Guerra Tapia, A., and Iglesias Díez, L. (2002) Hypohidrotic ectodermal dysplasia: a cause of fever of unknown origin. An. Esp. Pediatr. 56, 253–257 (in Spanish). Spfaer, J. A. (1981) A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 18, 459–460. Wohlfart, S., Hammersen, J., and Schneider, H. (2016b) Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J. Hum. Genet, 61, 891–897. Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., et al. (2018) ClinVar: improving ac 44 45 46 47 48 49 51 52 53 10 54 11 55 12 56 13 57 14 58 15 59 16 17 18 19 1 2 3 4 5 6 7 8 9 60 61 62 63 20 21 22 23 24 25 26 27 28 29 30 31 32 (50) 1975; 150 33 34 35 36 37 38 39 40 41 42 43 |
| References_xml | – reference: Yan, M., Zhang, Z., Brady, J. R., Schilbach, S., Fairbrother, W. J., and Dixit, V. M. (2002) Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Curr. Biol. 12, 409–413. – reference: Suda, N., Bazar, A., Bold, O., Jigjid, B., Garidkhuu, A., Ganburged, G., and Moriyama, K. (2010) A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD. Orthod. Craniofac. Res. 13, 114–117. – reference: Bibi, N., Ahmad, S., Ahmad, W., and Naeem, M. (2011) Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia. Australas J. Dermatol. 52, 37–42. – reference: Yang, Y., Luo, L., Xu, J., Zhu, P., Xue, W., Wang, J., Li, W., Wang, M., Cheng, K., Liu, S., et al. (2013) Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia. J. Dent. Res. 92, 500–506. – reference: Kawai, T., Nishikomori, R., Izawa, K., Murata, Y., Tanaka, N., Sakai, H., Saito, M., Yasumi, T., Takaoka, Y., Nakahata, T., et al. (2012) Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood 119, 5458–5466. – reference: Keng, S. B. (1984) Oro-facial manifestation of hypohidrotic ectodermal dysplasia—case report. Ann. Acad. Med. Singap. 13, 552–555. – reference: Liu, N., Shi, H.-r., Wu, Q.-h., Jiang, M., and Kong, X.-d. (2013) Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia. Chinese journal of medical genetics 30, 407–409. – reference: Hayashi, R., Farooq, M., Fujikawa, H., Fujimoto, A., Hashimoto, T., Ito, M., and Shimomura, Y. (2013) Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene. J. Dermatol. 40, 281–283. – reference: Liu, Y., Yu, X., Wang, L., Li, C., Archacki, S., Huang, C., Liu, J. Y., Wang, Q., Liu, M., and Tang, Z. (2012) Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family. Gene 491, 246–250. – reference: Nikopensius, T., Annilo, T., Jagomägi, T., Gilissen, C., Kals, M., Krjutškov, K., Mägi, R., Eelmets, M., Gerst-Talas, U., Remm, M., et al. (2013) Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). J. Dent. Res. 92, 507–511. – reference: Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., and Kircher, M. (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 47, D886–D894. – reference: Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424. – reference: Mikkola, M. L. (2009) Molecular aspects of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. A 149A, 2031–2036. – reference: Nishikomori, R., Akutagawa,H., Maruyama, K., Nakata-Hizume, M., Ohmori, K., Mizuno, K., Yachie, A., Yasumi, T., Kusunoki, T., Heike, T., et al. (2004) X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 103, 4565–4572. – reference: Lexner, M. O., Bardow, A., Hertz, J. M., Nielsen, L. A., and Kreiborg, S. (2007) Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Int. J. Paediatr. Dent. 17, 10–18. – reference: Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434–443. – reference: Tape, M. W., and Tye, E. (1995) Ectodermal dysplasia: literature review and a case report. Compend. Contin. Educ. Dent. 16, 524–528. – reference: Chassaing, N., Cluzeau, C., Bal, E., Guigue, P., Vincent, M.-C., Viot, G., Ginisty, D., Munnich, A., Smahi, A., and Calvas, P. (2010) Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br. J. Dermatol. 162, 1044–1048. – reference: Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 32, 70–72. – reference: Viljoen, D. L., and Winship, W. S. (1988) A new form of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. 31, 25–32. – reference: Barbaro, V., Confalonieri, L., Vallini, I., Ferrari, S., Ponzin, D., Mantero, G., Willoughby, C. E., Parekh, M., and Di Iorio, E. (2012) Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. J. Mol. Diagn. 14, 38–45. – reference: Ersoy-Evans, S., Erkin, G., Fassihi, H., Chan, I., Paller, A. S., Sürücü, S., and McGrath, J. A. (2006) Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J. Am. Acad. Dermatol. 55, 157–161. – reference: Rifai, L., Port-Lis, M., Tabet, A. C., Bailleul-Forestier, I., Benzacken, B., Drunat, S., Kuzbari, S., Passemard, S., Verloes, A., and Aboura, A. (2010) Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am. J. Med. Genet. A 152A, 111–117. – reference: Farooq, M., Kurban, M., Fujimoto, A., Fujikawa, H., Abbas, O., Nemer, G., Saliba, J., Sleiman, R., Tofaili, M., Kibbi, A.-G., et al. (2013) A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Hum. Mutat. 34, 578–581. – reference: Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., et al. (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 46, D1062–D1067. – reference: Wohlfart, S., Söder, S, Smahi, A., and Schneider, H. (2016a) A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. Am. J. Med. Genet. A 170A, 249–253. – reference: Nijs, E. L., and Huisman, T. A. (2001) Recurrent fever and lack of tooth buds. A case of ectodermal dysplasia in a 9 months old boy. JBR-BTR 84, 256–257. – reference: Morlon, A., Munnich, A., and Smahi, A. (2005) TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. Hum. Mol. Genet. 14, 3751–3757. – reference: Aydin, M., Rencuzogullari, E., Bayram, S., Sevgiler, Y., and Genc, A. (2017) Alterations on high HbF levels may be associated with KLF1 gene mutations. Cell. Mol. Biol. 63, 51–57. – reference: Freire-Maia, N., Fortes, V. A., Pereira, L. C., Opitz, J. M., Marcalle, F. A., and Cavalli, I. J. (1975) A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs. J. Med. Genet. 12, 308–310. – reference: Norval, E. J., van Wyk, C. W., Basson, N. J., and Coldrey, J. (1988) Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study. Pediatr. Dermatol. 5, 159–166. – reference: Vierucci, S., Baccetti, T., and Tollaro, I. (1994) Dental and craniofacial findings in hypohidrotic ectodermal dysplasia during the primary dentition phase. J. Clin. Pediatr. Dent. 18, 291–297. – reference: Chen, L., Zhao, Y.-y., Wei, Y., Wang, Y., Zhang, Y., Wang, Y.-q., Liu, J.-y., Yang, Y., and Tan, Y.-h. (2012) Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities, a case report. Chin. Med. J. 125, 3177–3179. – reference: Sun, X., Shen, J., Wu, W., Xie, J., Gao, C., Qin, L., Cui, Y., and Liu, J. (2013) Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. Chinese journal of medical genetics 30, 270–273 (in Chinese). – reference: Baskan Ülkü, S. Z., and Yavuz, I. (2011) Ektodermal displazili hastalarda ptotetik yaklasimlar (Prosthetic approaches in ectodermal dysplasia patients). J. Dent. Fac. Atatürk Uni. 21, 57–61 (in Turkish). – reference: Li, W., Gao, B.-d., Li, L.-y., Xiao, H. M., and Lu, G.-x. (2006) Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family. Chinese journal of medical genetics 23, 618–621 (in Chinese). – reference: Yoshioka, T., Nishikomori, R., Hara, J., Okada, K., Hashii, Y., Okafuji, I., Nodomi, S., Kawai, T., Izawa, K., Ohnishi, H., et al. (2013) Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. J. Clin. Immunol. 33, 1165–1174. – reference: Ahmed, H. A., El-Kamah, G. Y., Rabie, E., Mostafa, M. I., Abouzaid, M. R., Hassib, N. F., Mehrez, M. I., Abdel-Kader, M. A., Mohsen, Y. H., Zada, S. K., et al. (2021) Gene mutations of the three ectodysplasin pathway key players (EDA, EDAR, and EDARADD) account for more than 60% of Egyptian ectodermal dysplasia: a report of seven novel mutations. Genes (Basel) 12, 1389. – reference: Martínez-Romero, M. C., Ballesta-Martínez, M. J., López-González, V., Sánchez-Soler, M. J., Serrano-Antón, A. T., Barreda-Sánchez, M., Rodriguez-Peña, L., Martínez-Menchon, M. T., Frías-Iniesta, J., Sánchez-Pedreño, P., et al. (2019) EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J. Rare Dis. 14, 281–291. – reference: Wohlfart, S., Hammersen, J., and Schneider, H. (2016b) Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J. Hum. Genet, 61, 891–897. – reference: Yin, W., Ye, X., and Bian, Z. (2013) The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree. Dermatology 226, 105–110. – reference: Monreal, A. W., Zonana, J., and Ferguson, B. (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63, 380–399. – reference: Baskan, Z., Yavuz, I., Ulku, R., Kaya, S., Yavuz, Y., Basaran, G., Adiguzel, O., and Ozer, T. (2006) Evaluation of ectodermal dysplasia. Kaohsiung J. Med. Sci. 22, 171–176. – reference: Schindler, A., Guazzarotti, L., Mameli, C., Urbani, E., Mozzanica, F., Guerrini, L., and Zuccotti, G. V. (2013) Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27). Int. J. Pediatr. Otorhinolaryngol. 77, 1606–1608. – reference: Rodewald, A., and Zahn-Messow, K. (1982) Dermatoglyphics findings in families with X-linked hypohidrotic (or anhidrotic) ectodermal dysplasia (HED). Prog. Clin. Biol. Res. 84, 451–458. – reference: Shoenfeld, Y., Shapiro, Y., Fisher, B. K., and Dvoretzky, I. (1975) Sweating in the ‘anhidrotic type’ of congenital ectodermal dysplasia. Dermatologica 150, 277–282. – reference: Lefebvre, S., and Mikkola, M. L. (2014) Ectodysplasin research—where to next? Semin. Immunol. 26, 220–228. – reference: Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., et al. (2007) Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum. Mutat. 28, 703–709. – reference: Salvi, A., Giacopuzzi, E., Bardellini, E., Amadori, F., Ferrari, L., De Petro, G., Borsani, G., and Majorana, A. (2016) Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. Int. J. Mol. Med. 38, 1338–1348. – reference: Koguchi-Yoshioka, H., Wataya-Kaneda, M., Yutani, M., Nakano, H., Sawamura, D., and Katayama, I. (2015) Partial anhidrosis demonstrated by Q-SART in a patient with a novel mutation in the EDARADD gene. J. Eur. Acad. Dermatol. Venereol. 29, 1443–1444. – reference: Monreal, A. W., Ferguson, B. M., Headon, D. J., Street, S. L., Overbeek, P. A., and Zonana, J. (1999) Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat. Genet. 22, 366–369. – reference: Segurado Rodríguez, M. A., Ortiz De Frutos, F. J, Cornejo Navarro, P., Rodríguez Peralto, J. L., Sánchez Del Pozo, J., Guerra Tapia, A., and Iglesias Díez, L. (2002) Hypohidrotic ectodermal dysplasia: a cause of fever of unknown origin. An. Esp. Pediatr. 56, 253–257 (in Spanish). – reference: Chaudhary, A. K., Girisha, K. M., and Bashyam, M. D. (2016) A novel EDARADD 5’-splice site mutation resulting in activation of two alternate cryptic 5’-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. Am. J. Med. Genet. A 170, 1639–1641. – reference: Asamoah, A., Decker, A. B., Wiktor, A., and Van Dyke, D. L. (2003) Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay. Am. J. Med. Genet. A 118A, 82–85. – reference: Shi, H.-j., Fang, Q., and Wang, L.-t. (2005) Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion. Chin Med. J. 85, 1845–1848 (in Chinese). – reference: Callea, M., Teggi, R., Yavuz, I., Tadini, G., Priolo, M., Crovella, S., Clarich, G., and Grasso, D. L. (2013) Ear nose throat manifestations in hypoidrotic ectodermal dysplasia. Int. J. Pediatr. Otorhinolaryngol. 77, 1801–1804. – reference: Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., and Overbeek, P. A. (2001) Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414, 913–916. – reference: Mousumi, T., Xiong, Z., Lu, L., Liu, S., Xia, K., and Hu, Z. (2013) Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. Journal of Central South University, Medical sciences 38, 761–765. – reference: Potter, P. C., and Bowie, M. D. (1984) Dysphagia in hypohidrotic ectodermal dysplasia. A case report. S. Afr. Med. J. 66, 232–234. – reference: Wang, H. J., Tang, Z. L., Lin, Z. M., Dai, L. L., Chen, Q., and Yang, Y. (2014) Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. Clin. Exp. Dermatol. 39, 158–161. – reference: Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., Saleh-Gohari, N., Baghestani, S., Krawitz, P. M., Hecht, J., and Mundlos, S. (2013) Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. Br. J. Dermatol. 168, 1353–1356. – reference: Feng, H.-l., Zhang, X.-x., and Wu, H. (2007) Research advances in tooth agenesis. Journal of Peking University, Health sciences 39, 13–17 (in Chinese). – reference: Spfaer, J. A. (1981) A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 18, 459–460. – ident: 27 doi: 10.1111/j.1365-263X.2006.00801.x – ident: 20 doi: 10.1038/414913a – ident: 56 doi: 10.1002/ajmg.1320310106 – ident: 2 doi: 10.1002/ajmg.a.10929 – ident: 42 doi: 10.1093/nar/gky1016 – ident: 12 – ident: 5 doi: 10.1016/j.jmoldx.2011.07.008 – ident: 40 doi: 10.1111/j.1525-1470.1988.tb01162.x – ident: 43 doi: 10.1038/gim.2015.30 – ident: 34 doi: 10.1086/301984 – ident: 16 – ident: 55 – ident: 7 doi: 10.1016/S1607-551X(09)70303-1 – ident: 11 doi: 10.1002/ajmg.a.37607 – ident: 49 – ident: 51 doi: 10.1136/jmg.18.6.459 – ident: 1 doi: 10.3390/genes12091389 – ident: 45 – ident: 41 – ident: 38 doi: 10.1177/0022034513487210 – ident: 54 – ident: 58 doi: 10.1002/ajmg.a.37412 – ident: 4 doi: 10.1002/humu.20500 – ident: 28 doi: 10.1016/S1472-6483(11)60543-9 – ident: 21 doi: 10.1038/s41586-020-2308-7 – ident: 33 doi: 10.1038/11937 – ident: 47 doi: 10.1016/j.ijporl.2013.06.027 – ident: 23 – ident: 25 doi: 10.1093/nar/gkx1153 – ident: 59 doi: 10.1038/jhg.2016.75 – ident: 62 doi: 10.1159/000346610 – ident: 57 doi: 10.1111/ced.12248 – ident: 61 doi: 10.1177/0022034513487557 – ident: 37 – ident: 32 doi: 10.1002/ajmg.a.32855 – ident: 17 doi: 10.1136/jmg.12.3.308 – ident: 46 doi: 10.3892/ijmm.2016.2742 – ident: 60 doi: 10.1016/S0960-9822(02)00687-5 – ident: 13 doi: 10.1002/humu.21384 – volume: 150 start-page: 277 issn: 0011-9075 year: 1975 ident: 50 publication-title: Dermatologica doi: 10.1159/000251442 – ident: 53 – ident: 10 doi: 10.1111/j.1365-2133.2010.09670.x – ident: 3 doi: 10.14715/cmb/2017.63.8.12 – ident: 63 doi: 10.1007/s10875-013-9924-z – ident: 22 doi: 10.1182/blood-2011-05-354167 – ident: 35 doi: 10.1093/hmg/ddi405 – ident: 52 doi: 10.1111/j.1601-6343.2010.01484.x – ident: 30 doi: 10.1016/j.gene.2011.10.009 – ident: 36 – ident: 8 doi: 10.1111/j.1440-0960.2010.00685.x – ident: 15 doi: 10.1002/humu.22271 – ident: 29 – ident: 14 doi: 10.1016/j.jaad.2005.10.002 – ident: 48 doi: 10.1016/S1695-4033(02)77793-X – ident: 19 doi: 10.1111/1346-8138.12077 – ident: 26 doi: 10.1016/j.smim.2014.05.002 – ident: 9 doi: 10.1016/j.ijporl.2013.09.004 – ident: 24 doi: 10.1111/jdv.12493 – ident: 6 – ident: 31 doi: 10.1186/s13023-019-1251-x – ident: 39 doi: 10.1182/blood-2003-10-3655 – ident: 18 doi: 10.1111/bjd.12151 – ident: 44 doi: 10.1002/ajmg.a.33164 |
| SSID | ssj0020983 |
| Score | 2.326378 |
| Snippet | Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic.... |
| SourceID | proquest pubmed crossref jstage |
| SourceType | Aggregation Database Index Database Publisher |
| StartPage | 171 |
| SubjectTerms | anhidrotic Anhidrotic ectodermal dysplasia Biopsy Child Death Domain ectodermal dysplasia Ectodermal Dysplasia - genetics Ectodermal Dysplasia 1, Anhidrotic - genetics Ectodermal Dysplasia 1, Anhidrotic - pathology Ectodysplasin Edar-Associated Death Domain Protein - genetics EDARADD Endonuclease Female Genetic analysis Genetic disorders Humans Male Medical diagnosis MnII restriction endonuclease Mutation new mutation Pedigree Polymorphism Polymorphism, Restriction Fragment Length Receptors, Ectodysplasin - genetics Restriction fragment length polymorphism Sweat gland Teeth |
| Title | A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism |
| URI | https://www.jstage.jst.go.jp/article/ggs/98/4/98_22-00138/_article/-char/en https://www.ncbi.nlm.nih.gov/pubmed/37673591 https://www.proquest.com/docview/2901977273 https://www.proquest.com/docview/2862199713 |
| Volume | 98 |
| WOSCitedRecordID | wos001072006300001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| ispartofPNX | Genes & Genetic Systems, 2023/08/01, Vol.98(4), pp.171-178 |
| journalDatabaseRights | – providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 1880-5779 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0020983 issn: 1341-7568 databaseCode: DOA dateStart: 20120101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtZ1Lb9NAEIBXTWklLog3gVINEpwil9jxa8UpoCLEoeIQpNystb0OgdSO7CSq-wv5Wczsw3GFkKgQF8tar3c3mc-7M_uYYex1QEKNfN-RUnqOL8PQEZnMHLLEPDEOPF_kKthEdHERz-f8y8Hg2J6F2a2isoyvrvj6v4oa01DYdHT2FuLuCsUEvEeh4xXFjte_EvyUooSPdmgDC73Mr7ZtZJsqb5s1HZossTPAfk6u0dwe5aQCjvLqUmA6lilHwgjM7ksX5bdlXlfk2FWVQl35amQLEzRhIkazbf2DfCOZ-RK7ItEsyfkwTfDSfr5lQ8ouBQOplzpCeVGLhdqNQPFcsK51tWovKxS9dWxo1GZyjt0oSumOmtL3tE7rRSiB7XW1QINa6LPz521rJtXIXrjWZL4X5Ra_ip05_2ZmO7xJt9dO86m-HV1R0-1rxX_yM2oWZa8bx7HZiQIdsOdM6jTsqZwg0qFrbN_P4x7jfq8jd3VgGKMTuDrM0G_DDWo3iMNi0ZyhSa8WfffDarfZ0ZCQYLaEx4lPF89LVPbEPqQzdkjvgN3xooBzOzdgZg7GXPmT7X6WOcGB1b_tV35Dtzr6jubFQv7ZclIa1Ow-u2dMH5jqtjxgB7J8yI51MNT2Efs5BQQXDLhQFYDgwg1wYQoWXFDgggYXCFzYgwsELuzBhT240IEL-J4AAy5ocPGdHBBc0OBCBy6kLfTABQsuaHChD-5j9vXj-ezDJ8fEGXEyP5xsnLAI3bAY5xxtG9fNvEnm-4XrStScs0CSi7p04grpo3Ys0lCmQZajXRQKn6fcc1ELfMIOy6qUzxikBRf5uMjzCA2NKAu454dpiko5DzM3Hcshe2MllKy1O5mEzHCUpOLDcjFk77T4uly3oWjITqzME9MzYdGo-aOxh-bKkL3qHuNgQiuEopTVFvPEoUc7z1zM81Sz0jWA3D5NAu4-_6emvWB395_1CTvc1Fv5kh1lu82yqU_ZIJrHp4r9X2hpDBs |
| linkProvider | Directory of Open Access Journals |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=A+new+variant+of+the+ectodysplasin+A+receptor+death+domain+gene+associated+with+anhidrotic+ectodermal+dysplasia+in+a+Turkish+family+and+its+simple+diagnosis+by+restriction+fragment+length+polymorphism&rft.jtitle=Genes+%26+Genetic+Systems&rft.au=Rencuzogullari%2C+Eyyup&rft.au=Ezer%2C+Banu+Guven&rft.date=2023-08-01&rft.pub=The+Genetics+Society+of+Japan&rft.issn=1341-7568&rft.eissn=1880-5779&rft.volume=98&rft.issue=4&rft.spage=171&rft.epage=178&rft_id=info:doi/10.1266%2Fggs.22-00138&rft.externalDocID=article_ggs_98_4_98_22_00138_article_char_en |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1341-7568&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1341-7568&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1341-7568&client=summon |