A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.
Adolescent
Adult
Female
Genetic Predisposition to Disease
Granulosa Cells
/ metabolism
Growth Differentiation Factor 9
/ genetics
Humans
Morphogenesis
/ genetics
Oocytes
/ growth & development
Ovarian Follicle
/ growth & development
Primary Ovarian Insufficiency
/ genetics
Siblings
Transforming Growth Factor beta
/ genetics
Young Adult
GDF9
Primary ovarian insufficiency
Journal
Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
03
01
2021
accepted:
03
03
2021
pubmed:
3
4
2021
medline:
15
12
2021
entrez:
2
4
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33797006
doi: 10.1007/s10815-021-02144-x
pii: 10.1007/s10815-021-02144-x
pmc: PMC8266936
doi:
Substances chimiques
GDF9 protein, human
0
Growth Differentiation Factor 9
0
Transforming Growth Factor beta
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1539-1543Références
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