Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.
Reprod Biomed Online
; 45(4): 727-729, 2022 10.
Article
em En
| MEDLINE
| ID: mdl-35781182
ABSTRACT
RESEARCH QUESTION Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea? DESIGN:
A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.RESULTS:
A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified.CONCLUSIONS:
The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Ovariana Primária
/
Proteína Morfogenética Óssea 15
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article