Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.

ABSTRACT:

Purpose

To develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis.

Methods

A total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR, FSHB, FSHR, KLHL10, NR5A1, NANOS1, SEPT12, SYCP3, TEX11 genes. Variants with minor allele frequency < 1% were confirmed by Sanger sequencing.

Results

Nineteen missense variants were detected in 23 subjects with abnormal sperm count, whilst no variants were identified in normozoospermic men. Of identified variants, we prioritized variants classified as pathogenic and of uncertain significance (VUS) (63.1%, 12/19). No missense variants were found in males with normal seminal paramete

SUBMITTER: Rocca MS 

PROVIDER: S-EPMC7183017 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature