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

Int J Gynecol Cancer. 2016 Sep;26(7):1351-3. doi: 10.1097/IGC.0000000000000755.

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.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Female
  • Humans
  • Hydatidiform Mole / genetics*
  • Male
  • Mutation
  • Pregnancy
  • Recurrence

Substances

  • Adaptor Proteins, Signal Transducing
  • NLRP7 protein, human