Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice

作     者：Xi Yang Shuting Ren Jialin Yang Yuncheng Pan Zixue Zhou Qing Chen Yunzheng Fang Lingyue Shang Feng Zhang Xiaojin Zhang Yanhua Wu Xi Yang;Shuting Ren;Jialin Yang;Yuncheng Pan;Zixue Zhou;Qing Chen;Yunzheng Fang;Lingyue Shang;Feng Zhang;Xiaojin Zhang;Yanhua Wu

作者机构：State Key Laboratory of Genetic Engineering at School of Life SciencesHuman Phenome InstituteObstetrics and Gynecology HospitalFudan UniversityShanghai 200438China Obstetrics and Gynecology HospitalInstitute of Reproduction and DevelopmentState Key Laboratory of Genetic Engineering at School of Life SciencesFudan UniversityShanghai 200011China Human Phenome InstituteZhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Obstetrics and Gynecology HospitalInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200011China State Key Laboratory of Genetic Engineering at School of Life SciencesObstetrics and Gynecology HospitalFudan UniversityShanghai 200438China National Demonstration Center for Experimental Biology EducationSchool of Life SciencesFudan UniversityShanghai 200433China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2024年第51卷第2期

页      面：252-255页

核心收录：

学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学] 

基　　金：supported by the National Natural Science Foundation of China(32270658 and 32288101) the National Key Research and Development Program of China(2022YFC2703800) the Natural Science Foundation of Shanghai(20ZR1407000) 

主　　题：insufficiency fertility 

摘      要：Premature ovarian insufficiency(POI)is a severe female reproductive disorder that affects 1%of women in general populations(European Society for Human Reproduction and Embryology[ESHRE]Guideline Group on POI et al.,2016).An increasing prevalence up to 3.7%has been reported in a recent meta-analysis(Golezar et al.,2019).POl can lead to infertility or subfertility,as well as a range of complex complications suffering multi-organ systems,seriously threatening women s health and reducing the life *** contrast,POl is a representative heterogeneous disease with multiple *** more than 70 causative POI genes have been identified,the etiology of more than half of the POI patients is still ambiguous(Jiao et al.,2018).Unreported POI causative genes,therefore,remain to be identified.