Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia.

ABSTRACT:

Background

Oligoasthenoteratozoospermia (OAT) is a widespread cause of male infertility. One of the usual clinical manifestations of OAT is multiple morphological abnormalities of the sperm flagella (MMAF), which are frequently associated with mutations and defects in the dynein family. However, the relationship between the newly identified Dynein Axonemal Heavy Chain 3 (DNAH3) mutation and oligonasthenospermia in humans has not yet been established.

Methods

Whole exome sequencing, pathogenicity analysis, and species conservation analysis of mutation sites were conducted on two patients from different unrelated families with DNAH3 mutations. We identified representative mutation sites and predicted the protein structure following these mutations. The sperm characteristics of

SUBMITTER: Li S 

PROVIDER: S-EPMC11586517 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature