期刊
HUMAN MOLECULAR GENETICS
卷 31, 期 7, 页码 1013-1021出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddab242
关键词
-
资金
- National Key Research and Development Project [2019YFA-0802101]
- Key Research Project of Science &Technology Department of Sichuan Province [2020YJ0291]
This study identified mutations in the SOHLH1 gene that are associated with teratozoospermia and severe oligozoospermia in Chinese infertile patients. The mutations were found to decrease sperm count and various germ cells, leading to male infertility. These findings reveal a new recessive-inheritance pattern of male infertility linked to the SOHLH1 gene.
Non-obstructive azoospermia (NOA) is an important cause of male infertility, and the genetic pathogenesis is still incompletely understood. The previous study reported that heterozygous mutation of c.346-1G > A in spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1) was identified in two NOA patients and suggested it is the pathogenic factor for NOA. However, in our research, this heterozygous mutation was confirmed in three Chinese infertile patients who suffered from teratozoospermia, but they had normal sperm number. Intriguingly, a homozygous mutation of c.346-1G > A in SOHLH1 was detected in a severe oligozoospermia (SOZ) patient, characterized with severely decreased sperm count. Notably, we unprecedently revealed that this homozygous mutation of c.346-1G > A in SOHLH1 leads to the sharp decrease in various germ cells and spermatogenesis dysfunction, which is similar to the phenotype of SOHLH1 knockout male mice. Moreover, western blotting confirmed that the homozygous mutation declined SOHLH1 protein expression. Additionally, we correlated the good prognosis of intracytoplasmic sperm injection (ICSI) in the patients carrying the mutation of c.346-1G > A in SOHLH1. Thus, we suggested that the heterozygous mutation of c.346-1G > A in SOHLH1 is responsible for teratozoospermia, and this homozygous mutation in SOHLH1 impairs spermatogenesis and further leads to the reduced sperm count, eventually causing male infertility, which unveils a new recessive-inheritance pattern of SOHLH1-associated male infertility initially.
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