Biallelic mutations of <scp><i>CFAP58</i></scp> are associated with multiple morphological abnormalities of the sperm flagella
Yan-Kun Sha, Yanwei Sha, Wensheng Liu, Xingshen Zhu, Mingxiang Weng, Xinzong Zhang, Yifeng Wang, Huiliang Zhou
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.
Topics & Concepts
Intracytoplasmic sperm injectionSpermFlagellumExome sequencingBiologyMale infertilityGeneticsAndrologyCompound heterozygosityGeneMutationInfertilityMedicineEmbryoIn vitro fertilisationPregnancySperm and Testicular FunctionReproductive Biology and FertilityGenetic and Kidney Cyst Diseases