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Biallelic mutations of <scp> CFAP58 </scp> are associated with multiple morphological abnormalities of the sperm flagella
- Source :
- Clinical Genetics. 99:443-448
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
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.
- Subjects :
- Male
0301 basic medicine
medicine.medical_treatment
030105 genetics & heredity
Biology
Teratozoospermia
Flagellum
Intracytoplasmic sperm injection
Andrology
03 medical and health sciences
Loss of Function Mutation
Exome Sequencing
Genetics
medicine
Humans
Effective treatment
Abnormalities, Multiple
Genetic Predisposition to Disease
Gene
Alleles
reproductive and urinary physiology
Genetics (clinical)
Exome sequencing
urogenital system
Genetic Variation
Spermatozoa
Sperm
030104 developmental biology
Sperm Tail
Microtubule-Associated Proteins
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 99
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....6c2ca5d67efb5ac3c793da07bc194589