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.

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Persistent URL dx.doi.org/10.1097/IGC.0000000000000755, hdl.handle.net/1765/130460
Journal International Journal of Gynecological Cancer
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Citation
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