RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 1351
OP 1353
DO 10.1097/IGC.0000000000000755
VO 26
IS 7
A1 Reda Hemida
A1 Helena van Doorn
A1 Rosemary Fisher
YR 2016
UL http://ijgc.bmj.com/content/26/7/1351.abstract
AB 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.