Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.

ABSTRACT: Flagellogenesis in mammalian sperm is essential for sperm motility and successful egg fertilization. Multiple morphological abnormalities of the sperm flagella (MMAF) represent a condition characterized by various structural defects in the flagellum. While CFAP57 has been identified as a factor in the pathogenic mechanisms of MMAF, the precise molecular regulation underlying this process remains unclear. Here, we report novel biallelic mutations in the CFAP57 gene identified in two infertile males from two unrelated families. The first patient carried a homozygous nonsense mutation in CFAP57 [NM_001195831.2: c.3250 C > T (p.R1084X)], while the second was compound heterozygous for two missense mutations c.1340T > C (p.V447A) and c.1856G > A (p.R619H). CRISPR-Cas9-generated CFAP57 mutant mic

SUBMITTER: Chen Y 

PROVIDER: S-EPMC12751231 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature