A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole: A Brief Report

作者：Hemida Reda^*; van Doorn Helena; Fisher Rosemary

来源：International Journal of Gynecological Cancer, 2016, 26(7): 1351-1353.

DOI：10.1097/IGC.0000000000000755

• Recurrent hydatidiform mole
• Genetic mutation
• NLRP7

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.

• 出版日期2016-9