Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.

ABSTRACT:

Purpose

Multiple morphological abnormalities in the sperm flagella (MMAF) comprise a severe phenotype of asthenoteratozoospermia with reduced or absent spermatozoa motility. Whereas dozens of candidate pathogenic genes for MMAF have been identified, the genetic cause in a large proportion of patients is unknown. We attempted to identify novel genetic explanations for MMAF.

Methods

We performed whole-exome sequencing of patients with MMAF to identify pathogenic variants. The phenotypes of spermatozoa in patients carrying DNAH10 variants were investigated using haematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy. The expression and location of DNAH10 and other spermatozoa structure-related proteins were analyzed using immunofluor

SUBMITTER: Li K 

PROVIDER: S-EPMC8866613 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature