|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Like chromodomain helicase DNA binding protein 8 (CHD8), the most frequently mutated gene in individuals with ASD, the candidate gene <i>AT-rich interaction domain 1B</i> (<i>ARID1B</i>) encodes a chromatin remodeling factor.
|
28867767 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD.
|
30376831 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss of function alleles of human chd8 are correlated with autism spectrum disorder.
|
29079199 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly.
|
25257502 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology.
|
23160955 |
2012 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development.
|
25294932 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events.
|
28831199 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We characterized sexually dimorphic changes in mice carrying a heterozygous mutation in Chd8 (Chd8<sup>+/N2373K</sup>) that was first identified in human CHD8 (Asn2373LysfsX2), a strong ASD-risk gene that encodes a chromatin remodeler.
|
30104731 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus.
|
29768199 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del, n = 9) or pathogenic variants in the chromatin modifier CHD8 (CHD8<sup>+/-</sup>, n = 7).
|
31311581 |
2019 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62.5%), tall stature (47%), developmental delay and/or intellectual disability (81%), ASDs (84%), sleep difficulties (50%), gastrointestinal problems (40%), and distinct facial features.
|
31001818 |
2019 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes.
|
24243641 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive.
|
29920279 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) and LDL receptor-related protein 1 (<i>LRP1</i>), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively.
|
29545257 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>CHD8</i> (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies.
|
28321286 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41).
|
30107084 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) encodes a chromatin remodeling factor with among the highest <i>de novo</i> loss-of-function mutation rates in patients with autism spectrum disorder (ASD).
|
30692911 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, macrocephaly, and craniofacial abnormalities similar to patient phenotypes.
|
28402856 |
2017 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
|
25257502 |
2014 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability.
|
30277262 |
2018 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This case report supports the association of CHD8 mutations with classical autism, macrocephaly, infantile hypotonia, speech delay, lack of major ID, and psychopathology in late adolescence caused by insufficient dosage of CHD8.
|
26789910 |
2016 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a single case of an intragenic deletion of exons 26-28 in the CHD8 gene in a patient with autism and global developmental delay.
|
26921529 |
2016 |
|
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autistic patients also presented overexpression of genes regulated by androgen receptor (AR), and AR itself, which in turn interacts with CHD8 (chromodomain helicase DNA binding protein 8), a gene recently shown to be associated with the cause of autism and found to be upregulated in some patients tested here.
|
23801657 |
2013 |
|
AUTISM, SUSCEPTIBILITY TO, 18
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
|
26789910 |
2016 |