P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
Year: 2024
Type: article
Abstract: Stromal Antigen 1 (STAG1, OMIM 604358) is a core protein of the cohesin complex (Sumara, Toth, Carramolino) that regulates chromatid separation in mitosis, gene transcription, DNA repair and DNA replication (Peters). Pathogenic variants in components of the cohesin complex are rare and referred to as cohesinopathies. A published cohort of 17 patients with STAG1 pathogenic variants (7 deletions, 8 missense and 2 frameshift) notes a neurodevelopmental phenotype (Lehalle). De novo changes were noted in 76% of the cohort, while 12% were maternally inherited and 12% were unknown.
Source: Genetics in Medicine Open
Institutions: Mayo Clinic, Medical College of Wisconsin
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588821