Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia

Abstract excerpt

Background The genetic causes for most male infertility due to severe oligoasthenoteratozoospermia (OAT) remain unclear. Objective To identify the genetic cause of male infertility characterised by OAT. Methods Variant screening was performed by whole-exome sequencing from 325 infertile patients with OAT and 392 fertile individuals. In silico and in vitro analyses were performed to evaluate the impacts of...