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

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

doi:10.1136/jmedgenet-2016-104468

Article dans une revue

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)

Abstract : 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.

Keywords : Cohesin Intellectual disability STAG1 datasharing

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Médecine humaine et pathologie

Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549105
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mercredi 28 juin 2017 - 15:07:04
Dernière modification le : jeudi 20 septembre 2018 - 16:14:05

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

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

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