A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.

ABSTRACT: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder characterized by ultrastructural defects in the cilia or flagella of cells, causing respiratory abnormalities, sinusitis, visceral transposition, and male infertility. DNAAF3 plays an important role in the assembly and transportation of axonemal dynein complexes in cilia or flagella and has been shown to be associated with PCD. To date, only two cases of PCD with infertility associated with DNAAF3 mutations have been reported, and no mouse models for this gene have been successfully constructed. This study was conducted on an infertile Chinese male patient with a history of bronchitis. Examination of the patient's semen revealed severe asthenozoospermia and teratospermia. Whole exome sequencing revealed a new homoz

SUBMITTER: Chen D 

PROVIDER: S-EPMC11408122 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature