P190: Expanded natural history of STAG1 cohesinopathy
Abstract
The STAG1 gene encodes a subunit of cohesin, a protein complex involved in chromosome segregation, gene expression, and DNA repair. Pathogenic variants in STAG1 cause a neurodevelopmental disorder associated with intellectual disability, mild dysmorphic features, epilepsy, and minor cerebral abnormalities observed via brain imaging (OMIM 617635). To date, fewer than 25 cases have been reported in the literature, the oldest of whom was 33 years at the time of assessment, leaving a substantial gap in knowledge regarding the full phenotype and natural progression of disease.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103684–103684
- Publication date
- 1 January 2026
- Language
- EN