Genetic analysis of a family with recurrent hydatidiform mole caused by NLRP7 gene mutation

Haixia CHEN; Jing ZHANG; Fang LI; Ye TIAN; Yan ZHANG; Xueru SONG; Wenyan TIAN; Xiaohong BAI

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Genetic analysis of a family with recurrent hydatidiform mole caused by NLRP7 gene mutation

VernacularTitle:NLRP7基因变异致复发性葡萄胎一个家系的遗传学分析
Author: Haixia CHEN ¹ ; Jing ZHANG ¹ ; Fang LI ¹ ; Ye TIAN ¹ ; Yan ZHANG ¹ ; Xueru SONG ¹ ; Wenyan TIAN ¹ ; Xiaohong BAI ¹
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1. 天津医科大学总医院妇产科生殖医学中心　天津市女性生殖健康与优生重点实验室，天津　300052
Publication Type:Journal Article
Keywords: Recurrent hydatidiform moles; NLRP7 gene; Whole exome sequencing; Gene mutation
From: Chinese Journal of Reproduction and Contraception 2024;44(7):734-738
CountryChina
Language:Chinese
Abstract: Recurrent hydatidiform moles refer to patients with at least two molar pregnancies. Mutations in NLRP7 and KHDC3L genes have been implicated in this disease. A pedigree with a history of recurrent hydatidiform mole who visited Tianjin Medical University General Hospital Reproductive Medicine Center, was selected as the study subject. Clinical data of the family member were collected, peripheral blood samples were taken from each member. Whole exon sequencing was carried out for the proband. Candidate genes were validated by Sanger sequencing of her family members. The whole exome sequencing showed that the proband had a homozygous mutation of c.2282G>A (p.Cys761Tyr) in the NLRP7 gene, the Sanger sequencing results were consistent with the results. Sanger sequencing results verified that the parents and her sisters carried heterozygous mutations. The proband obtained a clinical pregnancy through egg donation and intracytoplasmic sperm injection. Therefore, homozygous mutation of NLRP7 gene c.2282G>A (p.Cys761Tyr) is the genetic cause of recurrent hydatidiform mole. The discovery of this mutation broadens the spectrum of NLRP7 gene pathogenic variants and provide fertility guidance for such patients.