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

doi:10.1136/jmedgenet-2016-104468

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Article

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

Journal of medical genetics - 1 Jul 2017

Lehalle Daphné, Mosca-Boidron Anne-Laure, Begtrup Amber, Boute-Benejean Odile, Charles Perrine, Cho Megan T, Clarkson Amanda, Devinsky Orrin, Duffourd Yannis, Duplomb-Jego Laurence, Gérard Bénédicte, Jacquette Aurélia, Kuentz Paul, Masurel-Paulet Alice, McDougall Carey, Moutton Sébastien, Olivié Hilde, Park Soo-Mi, Rauch Anita, Revencu Nicole, Rivière Jean-Baptiste, Rubin Karol, Simonic Ingrid, Shears Deborah J, Smol Thomas, Taylor Tavares Ana Lisa, Terhal Paulien, Thevenon Julien, Van Gassen Koen, Vincent-Delorme Catherine, Willemsen Marjolein H, Wilson Golder N, Zackai Elaine, Zweier Christiane, Callier Patrick, Thauvin-Robinet Christel, Faivre Laurence

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28119487
DOI: 10.1136/jmedgenet-2016-104468

Genes

STAG1

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