STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Daphne Lehalle (1) , Anne-Laure Mosca-Boidron (2, 3) , Yannis Duffourd (2) , Laurence Duplomb Jego (3, 2) , Paul Kuentz (2) , Alice Masurel-Paulet (1) , Jean-Baptiste Riviere (3, 2) , Julien Thevenon (2) , Patrick Callier (1, 3, 2) , Christel Thauvin-Robinet (1, 2) , Laurence Faivre (1, 2)

1 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
2 LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
3 Laboratoire de cytogénétique (CHU de Dijon)

Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations.

Mots clés: Cohesin; Intellectual disability; STAG1; datasharing

Domaines: Médecine humaine et pathologie

Daphne Lehalle, Anne-Laure Mosca-Boidron, Yannis Duffourd, Laurence Duplomb Jego, Paul Kuentz, et al.. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.. Journal of Medical Genetics, 2017, 54 (7), pp.479-488. ⟨10.1136/jmedgenet-2016-104468⟩. ⟨hal-01549105⟩