Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.

ABSTRACT:

Background

The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.

Methods

Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid-Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.

Results

We identified

SUBMITTER: Yao C 

PROVIDER: S-EPMC8479749 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature