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Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella
Author(s) -
Sha Yankun,
Sha Yanwei,
Liu Wensheng,
Zhu Xingshen,
Weng Mingxiang,
Zhang Xinzong,
Wang Yifeng,
Zhou Huiliang
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13898
Subject(s) - intracytoplasmic sperm injection , sperm , flagellum , exome sequencing , biology , male infertility , genetics , andrology , compound heterozygosity , gene , mutation , infertility , medicine , embryo , in vitro fertilisation , pregnancy
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.