Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

doi:10.1007/s00431-025-06729-x

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Article

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

European journal of pediatrics - 17 Jan 2026

Ge Yan, Zhang Xin-Yi, Han Xu, Zhang Jing-Tao, Ma Wei-Meng, Yang Hao-Chun, Cao Hui-Qian, Lan Wei-Yu, Dong Wei, Hu Yang, Yang Yan-Ling, Sun Zhong-Sheng, Shen Ming

Abstract excerpt

Coffin-Siris Syndrome (CSS) is a neurodevelopmental disorder caused by variants in genes encoding BRG1- and BRM-associated factor (BAF) chromatin-remodeling complex. ARID1B gene variants are the most common cause of CSS. This study aimed to identify novel pathogenic ARID1B variants in patients clinically diagnosed with CSS and to explore their pathogenic role. In this study, eight patients clinically diagnosed...

Topics

Humans
Micrognathism
Hand Deformities, Congenital
Transcription Factors
Abnormalities, Multiple
Face
DNA-Binding Proteins
Intellectual Disability
Neck
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Child, Preschool

Male

Exome Sequencing

Mutation

Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 41545737
DOI: 10.1007/s00431-025-06729-x
PMCID: PMC12811165

Genes

ARID1B
MSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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