AJHG: Exome sequencing improves diagnosis and treatment of male infertility

Non-obstructive azoospermia (NOA) is a common and severe form of male infertility, affecting approximately 1% of adult males

A team of researchers from France and Tunisia recently employed exome sequencing to aid in disease diagnosis and treatment

Senior author Professor Pierre Ray from the French National Institute of Health and Medical Research and colleagues wrote: "The aim of this study was to improve the genetic diagnosis of NOA by identifying novel genes associated with NOA in humans, and to improve the genetic diagnosis of NOA by individual genotype.

The research team looked for suspicious mutations in protein-coding regions in 96 Tunisian men diagnosed with idiopathic NOA

"Given the extreme genetic heterogeneity of NOA and the prevalence of sequencing technologies, we believe that it is time to incorporate whole-exome sequencing into genetic testing of infertile men," the authors suggest

On average, dozens of homozygous variants and nearly 1,500 heterozygous variants were identified per participant, which the researchers then screened using bioinformatics methods

The identification of these variants resulted in a "high confidence" diagnosis in 18 patients and a latent diagnosis in 4 patients in whom a previously unidentified missense mutation was identified

The researchers noted that some of the newly discovered genes were associated with infertility in females or in knockout mouse models

Coincidentally, for these 12 patients with meiosis-related gene mutations, their testicular sperm retrieval treatment also failed

Original text retrieval

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

Published: February 15, 2022 DOI: https://doi.