The compound heterozygous mutations of <i>CFAP65</i> cause multiple morphological abnormalities of sperm flagella in infertile men

Abstract

Learning points for cliniciansCilia and flagella-associated protein 65 (CFAP65), located on the acrosome and flagellar midpiece of the spermatozoon, is essential for spermatogenesis and male fertility.Here, we report novel CFAP65 stop-gain bi-allelic variants in a Chinese infertile patient presenting with multiple morphological abnormalities of sperm flagella.