Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders
Shimeng Chen1,2, Fei Yin1,2, Fang He1,2
1Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.
CNS Neuroscience & Therapeutics
|July 30, 2026
Summary
Chromatin remodeling complex (CRC) disorders in children are mainly caused by CHD and BAF complex gene variants. These conditions present with global developmental delay/intellectual disability and epilepsy, showing distinct patterns between CRC complexes.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Chromatin remodeling complexes (CRCs) play crucial roles in gene regulation.
- Dysregulation of CRCs is implicated in various developmental and neurological disorders.
- Understanding the genetic and phenotypic spectrum of CRC-related neurological disorders is essential for diagnosis and management.
Purpose of the Study:
- To delineate the genotypic and phenotypic characteristics of children with chromatin remodeling complex (CRC)-related neurological disorders.
- To identify the specific CRC genes and complexes most frequently associated with these conditions.
- To explore the distinct clinical presentations linked to variants in different CRC complexes.
Main Methods:
- Retrospective analysis of clinical data from 50 pediatric patients with variants in CRC genes.
- Detailed examination of genotype-phenotype correlations.
- Assessment of epilepsy characteristics, including seizure types, EEG findings, and treatment response.
Main Results:
- Fifty patients were analyzed, with variants identified in CHD, BAF, and ISWI complexes.
- Global developmental delay/intellectual disability (GDD/ID) and epilepsy were the predominant phenotypes.
- BAF complex variants were associated with GDD/ID and specific EEG abnormalities, while CHD complex variants were linked to heat-sensitive seizures.
Conclusions:
- Chromatin remodeling complex (CRC)-related neurological disorders are predominantly caused by variants in CHD and BAF complexes.
- Key genes involved include CHD2, ARID1B, and SMARCA2.
- Distinct clinical patterns exist between CHD and BAF complex-related disorders, emphasizing the need for precise genetic diagnosis.
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