Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
Reprod Biomed Online
; 43(5): 899-902, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-34497033
ABSTRACT
RESEARCH QUESTION Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea? DESIGN:
A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.RESULTS:
A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified.CONCLUSIONS:
Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Ovariana Primária
/
Proteínas de Ciclo Celular
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Reprod Biomed Online
Assunto da revista:
MEDICINA REPRODUTIVA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Reino Unido