Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella

Clin Genet. 2021 Mar;99(3):443-448. doi: 10.1111/cge.13898. Epub 2020 Dec 18.

Abstract

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole-exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two patients. The variants are rare and pathogenic, and CFAP58 was absent in the CFAP58-mutated sperm. The F037/II:1 couple benefited from intracytoplasmic sperm injection (ICSI). This study further indicated that CFAP58 is a pathogenic gene associated with MMAF and ICSI is an effective treatment.

Keywords: CFAP58; ICSI; MMAF; biallelic mutations; whole-exome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / metabolism
  • Abnormalities, Multiple / pathology
  • Alleles
  • Exome Sequencing
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Loss of Function Mutation
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Microtubule-Associated Proteins / metabolism
  • Sperm Tail / metabolism
  • Sperm Tail / pathology*
  • Spermatozoa / abnormalities*
  • Spermatozoa / metabolism
  • Spermatozoa / pathology*
  • Teratozoospermia / genetics*
  • Teratozoospermia / metabolism

Substances

  • Microtubule-Associated Proteins