A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure
Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recu...
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| Published in: | International journal of fertility & sterility Vol. 13; no. 2; pp. 135 - 138 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Iran
Royan Institute of Iran
01.07.2019
Royan Institute Royan Institute (ACECR), Tehran |
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| ISSN: | 2008-076X, 2008-0778 |
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| Abstract | Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM).
,
and
are maternal-effect genes involved in RHMs.
is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in
and
genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage.
In this experimental study, DNA was extracted from blood samples.
and
were polymerase chain reaction (PCR) amplified. The PCR products were purified and Sanger sequenced.
In this study, there is no mutation in
gene but a novel mutation was identified in the NACHT domain of
gene. Patient with five recurrent moles had this mutation in the homozygous state while her sister with one miscarriage and one normal child showed this mutation in the heterozygous state.
In this study, we identified a new mutation in
gene of a patient with recurrent HM. Following egg donation, this patient has a normal boy. The sister of this patient with heterozygous mutation has a spontaneous abortion and one normal child that confirm the impact of a defective allele of
on reproductive wastage in a recent finding. |
|---|---|
| AbstractList | Background Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM). NLRP7, KHDC3L and PADI6 are maternal-effect genes involved in RHMs. NLRP7 is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in NLRP7 and KHDC3L genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage. Materials and Methods In this experimental study, DNA was extracted from blood samples. KHDC3L and NLRP7 were polymerase chain reaction (PCR) amplified. The PCR products were purified and Sanger sequenced. Results In this study, there is no mutation in KHDC3L gene but a novel mutation was identified in the NACHT do- main of NLRP7 gene. Patient with five recurrent moles had this mutation in the homozygous state while her sister with one miscarriage and one normal child showed this mutation in the heterozygous state. Conclusion In this study, we identified a new mutation in NLRP7 gene of a patient with recurrent HM. Following egg donation, this patient has a normal boy. The sister of this patient with heterozygous mutation has a spontaneous abortion and one normal child that confirm the impact of a defective allele of NLRP7 on reproductive wastage in a recent finding. Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM). , and are maternal-effect genes involved in RHMs. is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in and genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage. In this experimental study, DNA was extracted from blood samples. and were polymerase chain reaction (PCR) amplified. The PCR products were purified and Sanger sequenced. In this study, there is no mutation in gene but a novel mutation was identified in the NACHT domain of gene. Patient with five recurrent moles had this mutation in the homozygous state while her sister with one miscarriage and one normal child showed this mutation in the heterozygous state. In this study, we identified a new mutation in gene of a patient with recurrent HM. Following egg donation, this patient has a normal boy. The sister of this patient with heterozygous mutation has a spontaneous abortion and one normal child that confirm the impact of a defective allele of on reproductive wastage in a recent finding. Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM). NLRP7, KHDC3L and PADI6 are maternal-effect genes involved in RHMs. NLRP7 is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in NLRP7 and KHDC3L genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage.BACKGROUNDHydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM). NLRP7, KHDC3L and PADI6 are maternal-effect genes involved in RHMs. NLRP7 is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in NLRP7 and KHDC3L genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage.In this experimental study, DNA was extracted from blood samples. KHDC3L and NLRP7 were polymerase chain reaction (PCR) amplified. The PCR products were purified and Sanger sequenced.MATERIALS AND METHODSIn this experimental study, DNA was extracted from blood samples. KHDC3L and NLRP7 were polymerase chain reaction (PCR) amplified. The PCR products were purified and Sanger sequenced.In this study, there is no mutation in KHDC3L gene but a novel mutation was identified in the NACHT domain of NLRP7 gene. Patient with five recurrent moles had this mutation in the homozygous state while her sister with one miscarriage and one normal child showed this mutation in the heterozygous state.RESULTSIn this study, there is no mutation in KHDC3L gene but a novel mutation was identified in the NACHT domain of NLRP7 gene. Patient with five recurrent moles had this mutation in the homozygous state while her sister with one miscarriage and one normal child showed this mutation in the heterozygous state.In this study, we identified a new mutation in NLRP7 gene of a patient with recurrent HM. Following egg donation, this patient has a normal boy. The sister of this patient with heterozygous mutation has a spontaneous abortion and one normal child that confirm the impact of a defective allele of NLRP7 on reproductive wastage in a recent finding.CONCLUSIONIn this study, we identified a new mutation in NLRP7 gene of a patient with recurrent HM. Following egg donation, this patient has a normal boy. The sister of this patient with heterozygous mutation has a spontaneous abortion and one normal child that confirm the impact of a defective allele of NLRP7 on reproductive wastage in a recent finding. |
| Author | Fallahi, Jafar Momtahan, Mozhdeh Namavar-Jahromi, Bahia Fardaei, Majid Akbarzadeh-Jahromi, Mojgan Razban, Vahid Anvar, Zahra |
| Author_xml | – sequence: 1 givenname: Jafar surname: Fallahi fullname: Fallahi, Jafar organization: Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran – sequence: 2 givenname: Vahid surname: Razban fullname: Razban, Vahid organization: Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran – sequence: 3 givenname: Mozhdeh surname: Momtahan fullname: Momtahan, Mozhdeh organization: Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran – sequence: 4 givenname: Mojgan surname: Akbarzadeh-Jahromi fullname: Akbarzadeh-Jahromi, Mojgan organization: Fetal and Maternal Research Center, Pathology Department, School of Medicine, Shiraz University of Medical Science, Shiraz, Iran – sequence: 5 givenname: Bahia surname: Namavar-Jahromi fullname: Namavar-Jahromi, Bahia organization: Infertility Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran – sequence: 6 givenname: Zahra surname: Anvar fullname: Anvar, Zahra email: zahraanvar2000@yahoo.com organization: Infertility Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran.Electronic Address:zahraanvar2000@yahoo.com – sequence: 7 givenname: Majid surname: Fardaei fullname: Fardaei, Majid email: mfardaei@sums.ac.ir organization: Department of Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.Electronic Address: mfardaei@sums.ac.ir |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31037924$$D View this record in MEDLINE/PubMed |
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| Snippet | Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete... Background Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into... |
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| SubjectTerms | Egg donations Genes Gynecology hydatidiform mole khdc3l Medicine Miscarriage Mutation nlrp7 Obstetrics Original Patients Proteins |
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| Title | A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure |
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