A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
J Assist Reprod Genet
; 38(6): 1539-1543, 2021 Jun.
Article
en En
| MEDLINE
| ID: mdl-33797006
ABSTRACT
Premature or primary ovarian insufficiency (POI) affects approximately 1% of women and can be due to a variety of causes. Genetic causes include syndromic and non-syndromic POI. There are several promising candidate genes for whom a clear Mendelian association with non-syndromic POI has not yet been conclusively established, including GDF9. GDF9 is an oocyte-secreted factor and is part of the TGF-beta superfamily of morphogens. It has an important role in follicular development and granulosa cell maturation. We report the case of two siblings with primary ovarian insufficiency (POI) and a homozygous truncating variant in GDF9 (c.604C>T; p.(Gln202*). This report helps establish a clear gene-disease association between GDF9 and POI and argues for routine evaluation for GDF9 variants in patients undergoing genomic investigation for POI.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Insuficiencia Ovárica Primaria
/
Predisposición Genética a la Enfermedad
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Factor 9 de Diferenciación de Crecimiento
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Morfogénesis
Límite:
Adolescent
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Adult
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Female
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Humans
Idioma:
En
Revista:
J Assist Reprod Genet
Asunto de la revista:
GENETICA
/
MEDICINA REPRODUTIVA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Australia