Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
CFAP58
ICSI
MMAF
biallelic mutations
whole-exome sequencing
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
10
10
2020
revised:
10
12
2020
accepted:
10
12
2020
pubmed:
15
12
2020
medline:
1
1
2022
entrez:
14
12
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Microtubule-Associated Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
443-448Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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