Analysis of a Chinese pedigree with female infertility due to WEE2 gene c. 495del homozygous frameshifting variant induced fertilization disorder
10.3760/cma.j.cn511374-20240702-00365
- VernacularTitle:WEE2基因c.495del纯合移码变异引起受精障碍导致女性不孕一个家系的分析
- Author:
Jinwei YANG
1
;
Zhiqiang WANG
;
Yaqiong GUO
;
Bo YAN
;
Zhongjun DING
;
Yali NI
Author Information
1. 甘肃省妇幼保健院（甘肃省中心医院）生殖医学中心，兰州 730050
- Publication Type:Journal Article
- Keywords:
Fertilization failure;
Female infertility;
WEE2 gene;
Whole-exome sequencing
- From:
Chinese Journal of Medical Genetics
2024;41(12):1478-1482
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a patient with repeated fertilization failure during assisted reproductive therapy, and to identify the source and mode of mutation.Methods:A couple treated at the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital in January 2024 for infertility with incomplete left tube obstruction was selected as the study subject. Relevant clinical data was collected. The couple was subjected to whole exome sequencing (WES), and the candidate variant was verified by Sanger sequencing of their family members and bioinformatic analysis. The study has been approved by the the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital(Ethic No.2023GSFYLS78).Results:WES has identified a homozygous c. 495del frameshifting mutation of the WEE2 gene in the female partner, whilst no relevant variant was suspected in the male partner. The elder brother of the female partner was homozygous for the above variant, while her parents, aunts, uncle, grandmother, and grandmother were heterozygous for it. Based on the guidelines from the American College of Medical Genetics and Genomics, above variant was rated to be pathogenic. Conclusion:The homozygous c. 495del frameshifting mutation of the WEE2 gene probably underlay the oocyte fertilization disorder in this couple.
