1. Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
- Author
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William G. Newman, Glenda M. Beaman, James O'Sullivan, Emma K. Miles, Raymond T. O'Keefe, Gail Busby, Jonathan J. Edgerley, Leigh A M Demain, Cheryl Fitzgerald, and Eline Boetje
- Subjects
media_common.quotation_subject ,Nonsense ,Cell Cycle Proteins ,Primary Ovarian Insufficiency ,Bioinformatics ,Young Adult ,medicine ,Humans ,Amenorrhea ,Gene ,Loss function ,Genetic testing ,media_common ,medicine.diagnostic_test ,business.industry ,Puberty ,High-Throughput Nucleotide Sequencing ,Obstetrics and Gynecology ,Karyotype ,medicine.disease ,Pedigree ,Fragile X syndrome ,Reproductive Medicine ,Codon, Nonsense ,Karyotyping ,Primary Ovarian Failure ,Mutation ,Female ,business ,Gene Deletion ,Developmental Biology ,Rare disease - 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.
- Published
- 2021
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