Novel pathogenic variants in <scp> <i>NLRP7</i> </scp> , <scp> <i>NLRP5</i> , </scp> and <scp> <i>PADI6</i> </scp> in patients with recurrent hydatidiform moles and reproductive failure
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- Maryam Rezaei
- Department of Human Genetics McGill University Health Centre Research Institute Montreal Quebec Canada
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- Beena Suresh
- Department of Clinical Genetics & Genetic counselling Mediscan Systems Chennai India
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- Eric Bereke
- Department of Human Genetics McGill University Health Centre Research Institute Montreal Quebec Canada
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- Zahra Hadipour
- Medical Genetics Department Atieh Research Center and Hospital Tehran Iran
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- Monica Aguinaga
- Genetics and Genomics Department Instituto Nacional de Perinatologia Mexico City Mexico
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- Jianhua Qian
- Department of Gynecology The First Affiliated Hospital, Zhejiang University School of Medicine Hangzhou China
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- Rashmi Bagga
- Department of Obstetrics & Gynecology Post Graduate Institute of Medical, Education and Research, PGIMER Chandigarh India
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- Majid Fardaei
- Department of Medical Genetics Shiraz University of Medical Sciences Shiraz Iran
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- Reda Hemida
- Obstetrics and Gynecology Mansoura University Mansoura Egypt
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- Sujatha Jagadeesh
- Department of Clinical Genetics & Genetic counselling Mediscan Systems Chennai India
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- Jacek Majewski
- Department of Human Genetics McGill University Health Centre Research Institute Montreal Quebec Canada
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- Rima Slim
- Department of Human Genetics McGill University Health Centre Research Institute Montreal Quebec Canada
書誌事項
- 公開日
- 2021-02-23
- 権利情報
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- http://onlinelibrary.wiley.com/termsAndConditions#vor
- DOI
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- 10.1111/cge.13941
- 公開者
- Wiley
この論文をさがす
説明
<jats:title>Abstract</jats:title> <jats:p> Recurrent hydatidiform moles (RHMs) are human pregnancies with abnormal embryonic development and hyperproliferating trophoblast. Biallelic mutations in <jats:italic>NLRP7</jats:italic> and <jats:italic>KHDC3L,</jats:italic> members of the subcortical maternal complex (SCMC), explain the etiology of RHMs in only 60% of patients. Here we report the identification of seven functional variants in a recessive state in three SCMC members, five in <jats:italic>NLRP7</jats:italic> , one in <jats:italic>NLRP5,</jats:italic> and one in <jats:italic>PADI6</jats:italic> . In <jats:italic>NLRP5</jats:italic> , we report the first patient with RHMs and biallelic mutations. In <jats:italic>PADI6</jats:italic> , the patient had four molar pregnancies, two of which had fetuses with various abnormalities including placental mesenchymal dysplasia and intra‐uterine growth restriction, which are features of Beckwith‐Wiedemann syndrome and Silver Russell syndrome, respectively. Our findings corroborate recent studies and highlight the common oocyte origin of all these conditions and the continuous spectrum of abnormalities associated with deficiencies in the SCMC genes. </jats:p>
収録刊行物
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- Clinical Genetics
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Clinical Genetics 99 (6), 823-828, 2021-02-23
Wiley
