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...
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| Vydáno v: | Genes & Genetic Systems s. 22-00138 |
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The Genetics Society of Japan
2023
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| 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. |
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| 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. |
| 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 |
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| ContentType | Journal Article |
| Copyright | 2023 by The Author(s). |
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| DOI | 10.1266/ggs.22-00138 |
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Gene 491, 246-250. – 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: 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: 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: 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. 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(1981) A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. J. Med. Genet. 18, 459-460. – 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: 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: 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: Haghighi, A., Nikuei, P., Haghighi-Kakhki, H., Saleh-Gohari, N., Baghestani, S., Krawitz, P. M., Hecht, J., and Mundlos, S. 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| 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 |
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