| HRA004511
(Controlled Access)
|
Multiple morphological abnormalities of the sperm flagella (MMAF), involving absent, short, bent, coiled, and irregular flagella, is a severe form of sperm defect causing male infertility. Previous studies identified the mutations in CFAP69 gene as a MMAF-associated factor, but few cases have been reported. To further investigate the pathogenic mechanism and characteristics of CFAP69-induced MMAF, we recruited a total of 30 MMAF patients and identified a frameshift mutation in CFAP69 after genetic analysis. Ultrastructural and immunostaining analyses of spermatozoa from the proband showed highly aberrant sperm morphology, such as axonemal disassembly and absence of the central pair complex. The CFAP69-mutant male successfully got his progeny after undergoing assisted reproductive technology (ART) with intracytoplasmic sperm injection (ICSI). |
