A Novel Mutation in NLRP7 Related to Recurrent Hyda-tidiform Mole and Reproductive Failure

Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect genes are known to be involved in RHMs. NLRP7 is a major gene responsible for RHMs. This study was performed on patients with molar pregnancies and miscarriage MaterialsAndMethods DNA was extracted from blood samples. KHDC3L and NLRP7 were PCR amplified. The PCR products were purified and Sanger sequenced. Results In this study, a novel mutation was identified in the NACHT domain of NLRP7 encoded protein. This mutation in the homozygous state leads to five recurrent molar pregnancies with a normal child following egg donation. Conclusion This novel NLRP7 mutation in the heterozygous state leads to a spontaneous abortion and in the homozygous state leads to recurrent molar pregnancies.