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

Cm Wang (1) , Ph Dixon (1) , S Decordova (1) , Md Hodges (1) , Nj Sebire (2) , S Ozalp (3) , M Fallahian (4) , A Sensi (5) , F Ashrafi (6) , V Repiska (7) , J Zhao (8) , Y Xiang (8) , Pm Savage (2) , Mj Seckl (1) , Ra Fisher (1)

1 Imperial College London
2 Imperial College Healthcare NHS Trust
3 Eskisehir Osmangazi University
4 Shaheed Beheshti University of Medical Sciences
5 UniFE - Università degli Studi di Ferrara = University of Ferrara
6 Rockhampton Base Hospital
7 Comenius University in Bratislava
8 PUMCH - Peking Union Medical College Hospital [Beijing]

NLRP7 (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected individuals have recurrent molar pregnancies of diploid biparental origin. To date only a small number of affected families have been descibed. 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.

Mots clés: Genetics; Clinical genetics; Reproductive medicine

Cm Wang, Ph Dixon, S Decordova, Md Hodges, Nj Sebire, et al.. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine rich region.. Journal of Medical Genetics, 2009, 46 (8), pp.569. ⟨10.1136/jmg.2008.064196⟩. ⟨hal-00552673⟩