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Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

3 Aug 2018

Abstract excerpt

Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While NCBRS is known to be a recognizable and restricted phenotype, caused by missense mutations in SMARCA2, the term Coffin-Siris syndrome has been used lately for a...

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PMID: 30123105
DOI: 10.3389/fnmol.2018.00252

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Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersPMID 30123105Read ↗

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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingSemantic proximity Read ↗

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Semantic proximity Read ↗

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.Semantic proximity Read ↗

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Semantic proximity Read ↗

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.Semantic proximity Read ↗

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Numerous BAF complex genes are mutated in Coffin-Siris syndrome.Semantic proximity Read ↗

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