Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.

ABSTRACT:

Background

Non-obstructive azoospermia (NOA) is one of the most severe type in male infertility, and the genetic causes of NOA with meiotic arrest remain elusive.

Methods

Four Chinese families with NOA participated in the study. We performed whole-exome sequencing (WES) for the four NOA-affected patients in four pedigrees. The candidate causative gene was further verified by Sanger sequencing. Hematoxylin and eosin staining (H&E) and immunohistochemistry (IHC) were carried out to evaluate the stage of spermatogenesis arrested in the patients with NOA.

Results

We identified two novel homozygous frameshift mutations of MSH4 and two novel compound heterozygous variants in MSH4 in four pedigrees with NOA. Homozygous loss of function (LoF) variants in MSH4 was identified i

SUBMITTER: Li P 

PROVIDER: S-EPMC8796546 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature