Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency. Issue 5 (November 2021)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Reproductive biomedicine online. Volume 43:Issue 5(2021)
• Page Start: 899
• Page End: 902
• Publication Date: 2021-11
• Subjects: Genomic -- Primary ovarian insufficiency -- Rare disease -- STAG3; Human reproductive technology -- Periodicals; Human embryo -- Periodicals; Reproduction -- Periodicals; 616.692
• DOI: 10.1016/j.rbmo.2021.07.003
• Languages: English
• ISSNs: 1472-6483

Abstract

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.