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

      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; email: william.newman@manchester.ac.uk (2021-07-16)
      Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea? 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. A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI. [Abstract copyright: Copyright © 2021 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.]