A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

ABSTRACT:

Introduction

A previous study suggested that loss of CFAP47 function is involved in multiple morphological abnormalities of the sperm flagella (MMAF) in humans and mice. However, the comprehensive role of CFAP47 in spermatogenesis is largely unknown.

Methods

Whole-exome sequencing (WES) was conducted to identify pathogenic variant in two patients with MMAF. The functional effect of the identified mutations was investigated by immunofluorescence staining and western blotting. Intracytoplasmic sperm injection (ICSI) was used to assist fertilization for the patient with MMAF.

Results

In this study, we identified a novel missense mutation (c.1414G>A; p.V472M) in CFAP47 in two unrelated patients with oligoasthenoteratozoospermia. Intriguingly, in addition to

SUBMITTER: Liu M 

PROVIDER: S-EPMC10326514 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature