New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.

ABSTRACT: Male infertility is a common and complex disease and presents as a wide range of heterogeneous phenotypes. Multiple morphological abnormalities of the sperm flagellum (MMAF) phenotype is a peculiar condition of extreme morphological sperm defects characterized by a mosaic of sperm flagellum defects to a total asthenozoospermia. At this time, about 40 genes were associated with the MMAF phenotype. However, mutation prevalence for most genes remains individually low and about half of individuals remain without diagnosis, encouraging us to pursue the effort to identify new mutations and genes. In the present study, an a cohort of 167 MMAF patients was analyzed using whole-exome sequencing, and we identified three unrelated patients with new pathogenic mutations in DNHD1, a new gene rec

SUBMITTER: Martinez G 

PROVIDER: S-EPMC9916431 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature