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Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.

Journal of the neurological sciences - 15 Jul 2020

Lian Sophie, Ting Teck Wah, Lai Angeline H M, Tan Ee-Shien, Wei Heming, Cham Breana, Tan Ene-Choo

Abstract excerpt

BACKGROUND: Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association with CSS are mostly from patients of European ancestry. METHODS: We performed next-generation sequencing to identify pathogenic variants in patients with congenital disorders from...

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Abnormalities, Multiple
DNA-Binding Proteins
Face
Hand Deformities, Congenital
Intellectual Disability

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PMID: 32339967
DOI: 10.1016/j.jns.2020.116819

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