Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

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Wang C. M., Dixon P. H., Decordova S., Hodges M. D., Sebire N. J., Ozalp S., ...More

JOURNAL OF MEDICAL GENETICS, vol.46, no.8, pp.569-575, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 8
  • Publication Date: 2009
  • Doi Number: 10.1136/jmg.2008.064196
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.569-575
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Background: NLRP7 (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected women have recurrent molar pregnancies of diploid biparental origin. To date only a small number of affected families have been described. Our objectives were to investigate the diversity of mutations and their localisation to one or both isoforms of NLRP7, by screening a large series of women with FRHM and to examine the normal expression of NLRP7 in ovarian tissue.