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

Reprod Biomed Online. 2021 Nov;43(5):899-902. doi: 10.1016/j.rbmo.2021.07.003. Epub 2021 Jul 16.

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.

Keywords: Genomic; Primary ovarian insufficiency; Rare disease; STAG3.

Publication types

  • Case Reports

MeSH terms

  • Amenorrhea / genetics
  • Cell Cycle Proteins / genetics*
  • Codon, Nonsense / genetics
  • Female
  • Gene Deletion
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Karyotyping
  • Mutation*
  • Pedigree
  • Primary Ovarian Insufficiency / genetics*
  • Puberty / genetics
  • Young Adult

Substances

  • Cell Cycle Proteins
  • Codon, Nonsense
  • STAG3 protein, human