TY - JOUR T1 - A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole: A Brief Report JF - International Journal of Gynecologic Cancer JO - Int J Gynecol Cancer SP - 1351 LP - 1353 DO - 10.1097/IGC.0000000000000755 VL - 26 IS - 7 AU - Reda Hemida AU - Helena van Doorn AU - Rosemary Fisher Y1 - 2016/09/01 UR - http://ijgc.bmj.com/content/26/7/1351.abstract N2 - 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. ER -