Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

Abstract

RESEARCH QUESTION\nDoes a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea?\n\n\nDESIGN\nA 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.\n\n\nRESULTS\nA nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified.\n\n\nCONCLUSIONS\nBiallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.