The compound heterozygous mutations of CFAP65 cause multiple morphological abnormalities of sperm flagella in infertile men.
- Resource Type
- Article
- Authors
- Lu, Y; Ran, L; Liu, S; Wang, J; Li, T; Li, H; Wang, B
- Source
- QJM: An International Journal of Medicine. Dec2023, Vol. 116 Issue 12, p1020-1022. 3p.
- Subject
- *MALE infertility
*FLAGELLA (Microbiology)
*SPERMATOZOA
*GENETIC mutation
*CILIARY motility disorders
*MEDICAL genetics
- Language
- ISSN
- 1460-2725
This article discusses a case study of a Chinese man with infertility and multiple morphological abnormalities of sperm flagella (MMAF). The study identified compound heterozygous mutations in the CFAP65 gene as the likely genetic cause of the patient's infertility. CFAP65 is essential for spermatogenesis and male fertility, and mutations in this gene have been linked to MMAF and ciliopathy. The findings of this study contribute to the understanding of the genetic basis of male infertility and expand the variant spectrum of the CFAP65 gene. [Extracted from the article]