A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.
Front Genet
; 13: 1017302, 2022.
Article
em En
| MEDLINE
| ID: mdl-36246621
ABSTRACT
Non-obstructive azoospermia (NOA) is a severe factor of male infertility; it affects approximately 1% of the global male population and accounts for 40% of male infertility cases. However, the majority of NOA cases remain idiopathic. This is the first study using whole-exome sequencing (WES) to identify a novel missense mutation in the DND1 gene (c.212A>C, p. E71A) from a Pakistani family, that includes three males with NOA. This mutation is predicted to cause DND1 protein misfolding and weaken the DND1 interaction with NANOS2, a significant regulator in primordial germ cell development. Our study identified a DND1 pathogenic mutation in NOA patients and highlighted its critical role in male fertility in humans.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Idioma:
En
Revista:
Front Genet
Ano de publicação:
2022
Tipo de documento:
Article
País de publicação:
CH
/
SUIZA
/
SUÍÇA
/
SWITZERLAND