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

Research output: Contribution to journalArticlepeer-review

  • External authors:
  • Jonathan J Edgerley
  • Emma K. Miles
  • G Busby
  • Cheryl Fitzgerald

Abstract

Research Question. Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21 year old woman with primary amenorrhea. Design. A karyotype and genetic testing for Fragile X syndrome was undertaken. A next gen-eration sequencing panel of 24 genes associated with syndromal and nonsyndromal 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.

Bibliographical metadata

Original languageEnglish
JournalReproductive BioMedicine Online
Early online date16 Jul 2021
DOIs
Publication statusE-pub ahead of print - 16 Jul 2021