title: A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole: A Brief Report.
abstract: Recurrent hydatidiform moles are defined by the occurrence of two or more molar pregnancies in the same patient. Familial recurrent hydatidiform moles (FRHM) is a rare autosomal recessive condition where women have an inherited predisposition to have molar pregnancies. Genotyping demonstrated that they are diploid and biparental. We report a case of FRHM from Egypt with a history of 6 recurrent complete moles. Sequencing of the NLPR7 gene revealed a deleterious homozygous base change in exon 2, c.197G>A, which would result in a truncated protein p.W66*. To the best of our knowledge, this mutation has not been described before.
authors.affiliation: *Obstetrics and Gynecology, Mansoura University, Egypt; †Erasmus MC Cancer Clinic, Rotterdam, the Netherlands; and ‡Trophoblastic Disease Screening and Treatment Centre, Imperial College London, Charing Cross Campus, London, United Kingdom.
authors.forename: Reda
authors.initials: R
authors.lastname: Hemida
authors.forename: Helena
authors.initials: H
authors.lastname: van Doorn
authors.forename: Rosemary
authors.initials: R
authors.lastname: Fisher
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D008297:Male; D009154:Mutation; D011247:Pregnancy; D012008:Recurrence
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human