Abstract
In October, 2007, a 29-year-old white woman presented to our clinic with a history of four consecutive pregnancy losses, comprising a miscarriage in 2002, and three molar pregnancies in 2005, 2006, and 2007. She had no other relevant personal or family history. Histopathological review confirmed that the three recent pregnancies were all complete hydatidiform moles (figure A). Fluorescent microsatellite genotyping showed that all three hydatidiform moles were diploid and biparental in origin. We then screened our patient for mutations in NLRP7; she was found to be a compound heterozygote for two mutations, p.E13GfsX7 and p.R693P 1 Wang CM Dixon PH Decordova S et al. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine rich region. J Med Genet. 2009; 46: 569-575 Crossref PubMed Scopus (121) Google Scholar (figure B).
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
