Article
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Clinical genetics - 1 Jun 2021
Rezaei Maryam, Suresh Beena, Bereke Eric, Hadipour Zahra, Aguinaga Monica, Qian Jianhua, Bagga Rashmi, Fardaei Majid, Hemida Reda, Jagadeesh Sujatha, Majewski Jacek, Slim Rima
Abstract excerpt
Recurrent hydatidiform moles (RHMs) are human pregnancies with abnormal embryonic development and hyperproliferating trophoblast. Biallelic mutations in NLRP7 and KHDC3L, 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 NLRP7, one in NLRP5, and...
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