CHD7
Homo sapiens
Gene Name: chromodomain helicase DNA binding protein 7
Aliases: FLJ20357, FLJ20361, IS3, KAL5, KIAA1416
Chromosome No: 8
Chromosome Band: 8q12.2
Genetic Category: Syndromic--Rare Single Gene variant-Rare single gene variant/Functional-Functional
Associated Syndrome(s): CHARGE syndrome
Aliases: FLJ20357, FLJ20361, IS3, KAL5, KIAA1416
Chromosome No: 8
Chromosome Band: 8q12.2
Genetic Category: Syndromic--Rare Single Gene variant-Rare single gene variant/Functional-Functional
Associated Syndrome(s): CHARGE syndrome
Summary Statistics:
ASD Reports: 49
Recent Reports: 10
Annotated variants: 64
Associated CNVs: 5
Evidence score: 4
ASD Reports: 49
Recent Reports: 10
Annotated variants: 64
Associated CNVs: 5
Evidence score: 4
| Associated Disorders: |
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Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the CHD7 gene have been identified with CHARGE syndrome (Vissers et al., 2004), and a rare mutation in the CHD7 gene has been identified in an individual with ASD (ORoak et al., 2012).
Molecular Function
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
CHARGE syndrome
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability
DD, ID
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Congenital heart disease (CHD)
Neurodevelopmental disorders (NDD)
Support
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID
Support
Kismet/CHD7/CHD8 affects gut microbiota, mechanics, and the gut-brain axis in Drosophila melanogaster
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Support
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
ASD
CHARGE syndrome
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...
ASD
ID, epilepsy
Support
The CHD family chromatin remodeling enzyme, Kismet, promotes both clathrin-mediated and activity-dependent bulk endocytosis
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ASD, ADHD, ID
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
ID
Support
CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum
CHARGE syndrome
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
CHARGE syndrome
ASD, ID
Support
Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes.
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
ASD
Support
An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Multiple congenital anomalies
Support
Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8.
Support
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
Support
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients
CHARGE syndrome
Recent Recommendation
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.
Recent Recommendation
The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.
Recent Recommendation
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination.
Recent Recommendation
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Congenital heart disease (CHD)
DD, learning disabilities
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
Recent Recommendation
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects
Insomnia
Recent Recommendation
The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors.
Recent Recommendation
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.
