Macrocephaly
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly.
|
31823155 |
2020 |
Macrocephaly
|
0.490 |
Biomarker
|
disease |
BEFREE |
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
|
30670789 |
2019 |
Macrocephaly
|
0.490 |
Biomarker
|
disease |
CTD_human |
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
|
30670789 |
2019 |
Macrocephaly
|
0.490 |
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 |
Macrocephaly
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus.
|
29768199 |
2018 |
Macrocephaly
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly.
|
26834018 |
2016 |
Macrocephaly
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly.
|
25735987 |
2015 |
Macrocephaly
|
0.490 |
Biomarker
|
disease |
CTD_human |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
Macrocephaly
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly.
|
25257502 |
2014 |
Macrocephaly
|
0.490 |
Biomarker
|
disease |
BEFREE |
In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations.
|
25294932 |
2014 |
Macrocephaly
|
0.490 |
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 |
Macrocephaly
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|