PSMC3IP基因错义突变导致早发性卵巢功能不全的遗传学研究  

Monographic Research · Research Progress of Ovarian Dysfunction and Reproductive HealthGenetic study on a consanguineous Chinese family with premature ovarian insufficiency caused by a missense mutation of PSMC3IP gene

作　　者：孟桂全 蒙岚岚 杜娟 卢光琇[1,2,3,4] 谭跃球 林戈[1,2,3,4] 何文斌 Meng Guiquan;Meng Lanlan;Du Juan;Lu Guangxiu;Tan Yueqiu;Lin Ge;He Wenbin(Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha 410078,China;Reproductive and Genetic Hospital of CITIC-Xiangya,Changsha 410078,China;Clinical Research Center for Reproduction and Genetics In Hunan Province,Changsha 410078,China;National Engineering and Research Center of Human Stem Cells,Changsha 410078,China)

机构地区：[1]中南大学基础医学院生殖与干细胞工程研究所,长沙410078 [2]中信湘雅生殖与遗传专科医院,长沙410078 [3]湖南省生殖与遗传临床医学研究中心,长沙410078 [4]人类干细胞国家工程研究中心,长沙410078

出　　处：《中国医师杂志》2021年第9期1286-1289,共4页Journal of Chinese Physician

基　　金：国家重点研发计划(2018YFC1004901);国家自然科学基金(81771645,81971447);湖南省出生缺陷防治重点项目基金(2019SK1012);湖南省自然科学基金(2019JJ51006);中信湘雅生殖与遗传专科医院科研基金(YNXM-202002,YNXM-202004,YNXM-202006)。

摘　　要：目的探讨一个早发性卵巢功能不全(POI)家系的遗传学病因,为遗传咨询和生育咨询提供依据。方法应用全外显子组测序技术对POI患者进行检测,随后对候选突变进行Sanger测序验证及生物信息学分析,根据ACMG遗传变异分类标准与指南判定该变异的致病性。结果该POI患者PSMC3IP基因存在c.32G>T(p.G11V)纯合突变,生物信息学分析提示该变异在各物种中保守,ACMG遗传变异分类标准与指南判定该变异为可能致病变异。结论在该POI家系中鉴定了PSMC3IP基因纯合错义突变,为该患者的致病原因。PSMC3IP基因c.32G>T(p.G11V)突变为首次在人类POI患者中发现的PSMC3IP基因错义突变,丰富了PSMC3IP基因突变谱,为该家系遗传咨询和生育指导提供了依据。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.

关 键 词：早发性卵巢功能不全 全外显子组测序 PSMC3IP 错义突变 

分 类 号：R711.75[医药卫生—妇产科学]