Genetic study on a consanguineous Chinese family with premature ovarian insufficiency caused by a missense mutation of PSMC3IP gene
10.3760/cma.j.cn431274-20210731-00829
- VernacularTitle:PSMC3IP基因错义突变导致早发性卵巢功能不全的遗传学研究
- Author:
Guiquan MENG
1
;
Lanlan MENG
;
Juan DU
;
Guangxiu LU
;
Yueqiu TAN
;
Ge LIN
;
Wenbin HE
Author Information
1. 中南大学基础医学院生殖与干细胞工程研究所，长沙 410078
- Keywords:
Premature ovarian insufficiency;
Whole-exome sequencing;
PSMC3IP;
Missense mutation
- From:
Journal of Chinese Physician
2021;23(9):1286-1289
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology for a premature ovarian insufficiency (POI) patient from a consanguineous Chinese family, and to provide basis for genetic counseling and fertility counseling.Methods:Whole-exome sequencing was performed using DNA extracted from the blood sample of POI patient. Suspected pathogenic mutation was analyzed by bioinformatics methods and verified by Sanger sequencing. The pathogenicity of the variation was assessed according to the ACMG genetic variation classification criteria and guidelines.Results:A homozygous variation, c. 32G>T (p.G11V), of PSMC3IP was identified in the patient. Bioinformatics analysis revealed that the variation was conserved in different animal species, and this variation was classified as possible pathogenic variation according to the ACMG genetic variation classification criteria and guidelines.Conclusions:The homozygous missense variation of PSMC3IP is the cause of the POI patient in this family. We are reporting for the first time the missense variation in PSMC3IP gene caused POI, which enriched the mutation spectrum of PSMC3IP and provided the basis for genetic counseling and fertility guidance of this family.
