Whole exome sequencing analysis of 167 men with primary infertility.

ABSTRACT:

Background

Spermatogenic failure is one of the leading causes of male infertility and its genetic etiology has not yet been fully understood.

Methods

The study screened a cohort of patients (n = 167) with primary male infertility in contrast to 210 normally fertile men using whole exome sequencing (WES). The expression analysis of the candidate genes based on public single cell sequencing data was performed using the R language Seurat package.

Results

No pathogenic copy number variations (CNVs) related to male infertility were identified using the the GATK-gCNV tool. Accordingly, variants of 17 known causative (five X-linked and twelve autosomal) genes, including ACTRT1, ADAD2, AR, BCORL1, CFAP47, CFAP54, DNAH17, DNAH6, DNAH7, DNAH8, DNAH9, FSIP2, MSH4, SLC9C1, TDRD9,

SUBMITTER: Zhou H 

PROVIDER: S-EPMC11391607 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature