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Article

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

European journal of medical genetics - 1 Jan 2019

Gazdagh Gabriella, Blyth Moira, Scurr Ingrid, Turnpenny Peter D, Mehta Sarju G, Armstrong Ruth, McEntagart Meriel, Newbury-Ecob Ruth, Tobias Edward S, Joss Shelagh

Abstract excerpt

In the last 3 years de novo sequence variants in the ARID2 (AT-rich interaction domain 2) gene, a subunit of the SWI/SNF complex, have been linked to intellectual disabilities in 3 case reports including one which describes frameshift mutations in ARID2 in 2 patients with features resembling Coffin-Siris syndrome. Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by intellectual deficit,...

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Source

Identifiers

PMID: 29698805
DOI: 10.1016/j.ejmg.2018.04.014

Genes

ARID2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.PMID 29698805Read ↗

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