Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia

doi:10.1186/s12920-022-01288-8

	Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia
	Huang, Yuhua 1; Tian, Ruhui 1; Xu, Junwei 1; Ji, Zhiyong 3; Zhang, Yuxiang 1; Zhao, Liangyu 1,2; Yang, Chao 1; Li, Peng 1; Zhi, Erlei 1; Bai, Haowei 1; Han, Sha 1; Luo, Jiaqiang 1; Zhao, Jingpeng 3; Zhang, Jing 4; Zhou, Zhi2 ; Li, Zheng 1,3; Yao, Chencheng 1,2
	2022-06-19
发表期刊	BMC MEDICAL GENOMICS (IF:2.1[JCR-2023],2.5[5-Year])
EISSN	1755-8794
卷号	15 期号:1
发表状态	已发表
DOI	10.1186/s12920-022-01288-8
摘要	Background Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown. Methods Two Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA. Sanger sequencing and CNV array were used to ascertain the WES results. Hematoxylin and eosin (H&E) staining and immunofluorescence (IF) were carried out to evaluate the stage of spermatogenesis arrested in the affected cases. Results Novel heterozygous deletion (LOH) within SYCE1 (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous loss of function (LoF) variant in SYCE1 (NM_001143763: c.689_690 del:p.F230fs) were identified in one NOA-affected patient. While homozygous deletion within SYCE1 (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del) was detected in the other patient with meiotic arrest. H&E and IF staining demonstrated that the spermatogenesis was arrested at pachytene stage in the two patients with NOA, suggesting these two novel CNVs within SYCE1 could lead to meiotic defect and NOA. Conclusions We identified that two novel CNVs within SYCE1 are associated with meiotic arrest and male infertility. Thus, our study expands the knowledge of variants in SYCE1 and provides a new insight to understand the genetic etiologies of NOA.
关键词	CNVs Meiosis Azoospermia Gene mutations Spermatogenesis
URL	查看原文
收录类别	SCI ; SCIE
语种	英语
资助项目	National Natural Science Foundation of China[82001530,82001622,81871215,81971368,31801219,31771650] ; Clinical Research Innovation Plan of Shanghai General Hospital["KD007-ly01","CTCCR-2019C04","CTCCR-2019D07"] ; Key Project of Research and Development of Ningxia Hui Autonomous Region of China[2020BFH02002] ; Shanghai Sailing Program["20YF1439500","20YF1453700"] ; Clinical Research Plan of SHDC[SHDC2020CR3077B]
WOS研究方向	Genetics & Heredity
WOS类目	Genetics & Heredity
WOS记录号	WOS:000812930200001
出版者	BMC
Scopus 记录号	2-s2.0-85132119498
来源库	Scopus
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/195052
专题	生命科学与技术学院_PI研究组_周智组
通讯作者	Zhou, Zhi; Li, Zheng; Yao, Chencheng
作者单位	1.Department of Andrology,Shanghai Key Laboratory of Reproductive Medicine,The Center for Men’s Health,Urologic Medical Center,Shanghai General Hospital,Shanghai Jiao Tong University,Shanghai,200080,China 2.School of Life Science and Technology,ShanghaiTech University,Shanghai,201210,China 3.State Key Lab of Reproductive Medicine,Nanjing Medical University,Nanjing,211166,China 4.Reproductive Medicine Research Center,The Sixth Affiliated Hospital of Sun Yat-Sen University,Guangzhou,510620,China
通讯作者单位	生命科学与技术学院
推荐引用方式 GB/T 7714	Huang, Yuhua,Tian, Ruhui,Xu, Junwei,et al. Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia[J]. BMC MEDICAL GENOMICS,2022,15(1).
APA	Huang, Yuhua.,Tian, Ruhui.,Xu, Junwei.,Ji, Zhiyong.,Zhang, Yuxiang.,...&Yao, Chencheng.(2022).Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.BMC MEDICAL GENOMICS,15(1).
MLA	Huang, Yuhua,et al."Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia".BMC MEDICAL GENOMICS 15.1(2022).