A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole
A Brief Report
International Journal of Gynecological Cancer , Volume 26 - Issue 7 p. 1351- 1353
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.
|International Journal of Gynecological Cancer|
|Organisation||Department of Gynaecology & Obstetrics|
abd Elhady Hemida, R, van Doorn, H.C, & Fisher, R. (2016). A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole. International Journal of Gynecological Cancer, 26(7), 1351–1353. doi:10.1097/IGC.0000000000000755