A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure.

ABSTRACT:

Background

Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, dividing into two complete HM (CHM) and partial HM (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental HM (BiHMs) or recurrent HM (RHM). NLRP7, KHDC3L and PADI6 are maternal-effect genes involved in RHMs. NLRP7 is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage. The aim of this study was to genetic screen for mutations in NLRP7 and KHDC3L genes in an affected woman with previous history of 5RHM and the sibling with history of miscarriage.

Materials and methods

In this experimental stud

SUBMITTER: Fallahi J 

PROVIDER: S-EPMC6500085 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature