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| Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia | |
| 2021-10 | |
| 发表期刊 | JOURNAL OF MEDICAL GENETICS
 |
| ISSN | 0022-2593 |
| EISSN | 1468-6244 |
| 卷号 | 58期号:10页码:679-686 |
| DOI | 10.1136/jmedgenet-2020-107042 |
| 摘要 | Background The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. Methods Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid-Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases. Results We identified compound heterozygous loss of function (LoF) variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in both affected cases with NOA from family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three patients with NOA. Consistent with the autosomal recessive mode of inheritance, all of these SHOC1 variants were inherited from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA cases revealed one additional NOA case with a bi-allelic SHOC1 LoF variant (c.1464delT:p.D489Tfs*13). Conclusion To the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency. |
| 关键词 | Loss of function mutation |
| URL | 查看原文 |
| 收录类别 | SCIE |
| 语种 | 英语 |
| WOS研究方向 | Genetics & Heredity |
| WOS类目 | Genetics & Heredity |
| WOS记录号 | WOS:000702447400003 |
| 出版者 | BMJ PUBLISHING GROUP |
| 原始文献类型 | Article |
| 引用统计 | |
| 文献类型 | 期刊论文 |
| 条目标识符 | https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/128301 |
| 专题 | 生命科学与技术学院_PI研究组_周智组 |
| 通讯作者 | Zhang, Feng; Zhou, Zhi; Li, Zheng |
| 作者单位 | 1.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai, Peoples R China; 2.Shanghai Jiao Tong Univ, Ctr Mens Hlth, Urol Med Ctr,Sch Med, Inst Urol,Dept Androl,Shanghai Gen Hosp,Dept ART, Shanghai, Peoples R China; 3.Shanghai Jiao Tong Univ, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R China; 4.Fudan Univ, State Key Lab Genet Engn, Sch Life Sci,Shanghai Inst Planned Parenthood Res, Obstet & Gynecol Hosp,NHC Key Lab Reprod Regulat, Shanghai, Peoples R China; 5.Nanjing Med Univ, Ctr Global Hlth, Sch Publ Hlth, State Key Lab Reprod Med, Nanjing, 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 |
| 第一作者的第一单位 | 生命科学与技术学院 |
| 推荐引用方式 GB/T 7714 | Yao, Chencheng,Yang, Chao,Zhao, Liangyu,et al. Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia[J]. JOURNAL OF MEDICAL GENETICS,2021,58(10):679-686. |
| APA | Yao, Chencheng.,Yang, Chao.,Zhao, Liangyu.,Li, Peng.,Tian, Ruhui.,...&Li, Zheng.(2021).Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.JOURNAL OF MEDICAL GENETICS,58(10),679-686. |
| MLA | Yao, Chencheng,et al."Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia".JOURNAL OF MEDICAL GENETICS 58.10(2021):679-686. |
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