MBOAT1 homozygous missense variant causes nonobstructive azoospermia / 亚洲男科学杂志(英文版)
Asian Journal of Andrology
;
(6): 186-190, 2022.
Artigo
em Inglês
| WPRIM
| ID: wpr-928536
ABSTRACT
Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetiltransferases
/
Proteínas de Ciclo Celular
/
Azoospermia
/
Infertilidade Masculina
/
Mamíferos
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Estudo de etiologia
Limite:
Animais
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Asian Journal of Andrology
Ano de publicação:
2022
Tipo de documento:
Artigo
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