Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest

doi:10.1111/cge.14129

	Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest
	Yao, Chencheng 1,2; Hou, Dong 3,4; Ji, Zhiyong 1,2,5; Pang, Dongmei 6; Li, Peng 1; Tian, Ruhui 1; Zhang, Yuxiang 1; Ou, Ningjing 1,2,5; Bai, Haowei 1; Zhi, Erlei 1; Huang, Yuhua 1; Qin, Yingying 3,4; Zhao, Jingpeng 5; Wang, Chenchen 7; Zhou, Zhi2 ; Guo, Ting 3,4; Li, Zheng 1,5
	2022-03
发表期刊	CLINICAL GENETICS (IF:2.9[JCR-2023],3.5[5-Year])
ISSN	0009-9163
EISSN	1399-0004
发表状态	已发表
DOI	10.1111/cge.14129
摘要	The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome sequencing (WES) in members of a consanguineous family with two POI and two NOA patients to screen for potential pathogenic variants for familial POI and NOA. And a homozygous variant in SPATA22 (c.400C>T:p.R134X) was identified. Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. The candidate gene was further screened in the in-house WES database of idiopathic POI-affected patients. One additional compound heterozygous variant in SPATA22 (c.900+1G>A and c.31C>T:p.R11X) was found in one patient with sporadic POI and validated by minigene assay. Thus, this is the first report identifying SPATA22 as the causative gene for human POI. Combined with the observations in the familial patient with NOA, our findings highlighted the essential role of meiotic HR genes in gametogenesis and gonadal function maintenance.
关键词	gene variants meiosis NOA POI SPATA22
URL	查看原文
收录类别	SCI ; SCIE
语种	英语
资助项目	National Key Research and Development Program of China["2018YFC1003702","2017YFC1001100","2017YFC1002003"] ; National Natural Science Foundation of China[82001530,81971368,31801219,31771650,81871215,82171590,32070847] ; Shanghai Sailing Program["20YF1439500","20YF1453700"] ; Key Project of Research and Development of Ningxia Hui Autonomous Region of China[2020BFH02002]
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:000769465100001
出版者	WILEY
引用统计	正在获取...
文献类型	期刊论文
条目标识符	https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/165005
专题	生命科学与技术学院_PI研究组_周智组
通讯作者	Zhou, Zhi; Guo, Ting; Li, Zheng
作者单位	1.Shanghai Jiao Tong Univ, Shanghai Gen Hosp, Sch Med,Shanghai Key Lab Reprod Med, Dept Androl,Ctr Mens Hlth,Dept ART,Inst Urol,Urol, Shanghai 200080, Peoples R China 2.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China 3.Shandong Univ, Ctr Reprod Med, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Key Lab Reprod Endocrinol,Minist Educ, Jinan 250012, Peoples R China 4.Shandong Prov Clin Med Res Ctr Reprod Hlth, Jinan 250012, Peoples R China 5.Nanjing Med Univ, State Key Lab Reprod Med, Nanjing, Peoples R China 6.Shandong Univ Tradit Chinese Med, Jimo Hosp Tradit Chinese Med, Qingdao, Peoples R China 7.Chinese Acad Sci, Shanghai Adv Res Inst, Stem Cell & Reprod Biol Lab, Shanghai, Peoples R China
第一作者单位	生命科学与技术学院
通讯作者单位	生命科学与技术学院
推荐引用方式 GB/T 7714	Yao, Chencheng,Hou, Dong,Ji, Zhiyong,et al. Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest[J]. CLINICAL GENETICS,2022.
APA	Yao, Chencheng.,Hou, Dong.,Ji, Zhiyong.,Pang, Dongmei.,Li, Peng.,...&Li, Zheng.(2022).Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.CLINICAL GENETICS.
MLA	Yao, Chencheng,et al."Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest".CLINICAL GENETICS (2022).