Recurrent pregnancy loss in the female with a heterozygous mutation in KHDC3L gene

Abstract

ObjectiveThere are different causes for infertility in men and women that some of them are unknown. Hydatidiform mole (HM) is an unusual pregnancy in humans, in which embryo does not develop normally. HMs are divided into complete (CHM) and partial (PHM) forms. Recurrent or biparental HMs (RHMs) or (BiHMs) is a rare type of CHMs. NLRP7, KHDC3L, and PADI6 genes are three maternal-effect genes as the cause of BiHMs. Materials and methodsWe evaluated the presence of mutations in a patient with five molar pregnancies in her history. Genomic DNA was extracted from peripheral blood. Whole exome sequencing was carried out. To confirm of identified mutation, PCR was performed for two amplicons of the KHDC3L gene and Sanger sequenced. ResultsA woman with molar pregnancy had a p.M1V, c.1A > G mutation in the KHDC3L gene in homozygous state. Her mother had c.1A > G mutation in heterozygous state with three pregnancy losses and 5 normal children. ConclusionThis report is important and significant because it can be one of the unknown reasons for recurrent pregnancy loss (RPL). This study provides further evidence that women with heterozygous mutations in the KHDC3L gene are prone to spontaneous abortion.