No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

ABSTRACT:

Study question

Are mutations in NLRP2/7 (NACHT, LRR and PYD domains-containing protein 2/7) or KHDC3L (KH Domain Containing 3 Like) associated with recurrent pregnancy loss (RPL) or infertility?

Summary answer

We found no evidence for mutations in NLRP2/7 or KHDC3L in unexplained RPL or infertility.

What is known already

Mutations in NLRP7 and KHDC3L are known to cause biparental hydatidiform moles (BiHMs), a rare form of pregnancy loss. NLRP2, while not associated with the BiHM pathology, is known to cause recurrent Beckwith Weidemann Syndrome (BWS).

Study design, size, and duration

Ninety-four patients with well characterized, unexplained infertility were recruited over a 9-year period from three IVF clinics in Sweden. Blood samples from 24 patients with 3 or

SUBMITTER: Aghajanova L 

PROVIDER: S-EPMC4262469 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature