A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation.

ABSTRACT:

Background

Male infertility is a global health issue. The more causative genes related to human male infertility should be further explored. The essential role of Zcwpw1 in male mouse fertility has been established and the role of ZCWPW1 in human reproduction needs further investigation to verify.

Methods

An infertile man with oligoasthenoteratozoospermia phenotype and his parents were recruited from West China Second University Hospital, Sichuan University. A total of 200 healthy Han Chinese volunteers without any evidence of infertility were recruited as normal controls, while an additional 150 infertile individuals were included to assess the prevalence of ZCWPW1 variants in a sporadic male sterile population. The causative gene variant was identified by Whole-exome seque

SUBMITTER: Song Y 

PROVIDER: S-EPMC10837985 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature