Reproductive biomedicine online · 2021
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
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Demain Leigh A M, Boetje Eline, Edgerley Jonathan J, Miles Emma, Fitzgerald Cheryl T, Busby Gail, Beaman Glenda M, O'Sullivan James, O'Keefe Raymond T, Newman William G
Аннотация
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.
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.