A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
Fiche publication
Date publication
décembre 2022
Journal
Human reproduction (Oxford, England)
Auteurs
Membres identifiés du Cancéropôle Est :
Pr VIVILLE Stéphane, Dr CHARLET BERGUERAND Nicolas
Tous les auteurs :
Okutman O, Boivin M, Muller J, Charlet-Berguerand N, Viville S
Lien Pubmed
Résumé
Can the analysis of a large Turkish consanguineous family via whole exome sequencing (WES) identify novel causative genetic variation responsible for nonobstructive azoospermia (NOA) characterized by arrest at primary spermatocyte stage?
Mots clés
HORMA domain-containing protein 1, consanguineous family, genetics, male infertility, maturation arrest, nonobstructive azoospermia, spermatogenesis arrest, whole exome sequencing
Référence
Hum Reprod. 2022 12 16;: