期刊
GENES
卷 12, 期 6, 页码 -出版社
MDPI
DOI: 10.3390/genes12060937
关键词
Coffin-Siris syndrome; genotype-phenotype; BAF complex
资金
- NIGMS NIH HHS [T32 GM008638] Funding Source: Medline
Coffin-Siris syndrome is a multi-system intellectual disability syndrome with characteristic dysmorphic features, developmental delays, and organ system anomalies. Genotype-phenotype correlations indicate that variants in different genes within the BAF complex lead to varying clinical presentations. However, individuals with BAF-related conditions are at risk of multiple aspects of the phenotype, necessitating comprehensive management and surveillance.
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4. In order to describe more robust genotype-phenotype correlations, we collected data from 208 individuals from the CSS/BAF complex registry with pathogenic variants in seven of these genes. Data were organized into cohorts by affected gene, comparing genotype groups across a number of binary and quantitative phenotypes. We determined that, while numerous phenotypes are seen in individuals with variants in the BAF complex, hypotonia, hypertrichosis, sparse scalp hair, and hypoplasia of the distal phalanx are still some of the most common features. It has been previously proposed that individuals with ARID-related variants are thought to have more learning and developmental struggles, and individuals with SMARC-related variants, while they also have developmental delay, tend to have more severe organ-related complications. SOX-related variants also have developmental differences and organ-related complications but are most associated with neurodevelopmental differences. While these generalizations still overall hold true, we have found that all individuals with BAF-related conditions are at risk of many aspects of the phenotype, and management and surveillance should be broad.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据