Congenital ear anomaly NOS (disorder)
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0.200 |
GeneticVariation
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group |
BEFREE |
Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH.
|
30733481 |
2019 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
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group |
BEFREE |
Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental disorder causing coloboma, heart defects, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.
|
30629778 |
2019 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome is a congenital disorder affecting multiple organs and mainly caused by mutations in CHD7, a gene encoding a chromatin-remodeling protein.
|
29353058 |
2018 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in <i>CHD7</i> (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler.
|
29311329 |
2018 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.
|
27875026 |
2017 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner.
|
26921530 |
2016 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
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group |
BEFREE |
In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such as coloboma, heart defect, choanal atresia, retarded growth, genital abnomalities and ear anomalies.
|
26551301 |
2016 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Since 2004, CHD7 mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of CHD7 mutations is only now gradually emerging.
|
25257999 |
2014 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
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group |
BEFREE |
Lymphocyte counts <2000 cells/μL are associated with early death in infants with CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness) syndrome and CHD7 haploinsufficiency.
|
23747993 |
2013 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).
|
23215558 |
2012 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Since genetic analysis of the CHD7 gene has rarely been performed in previous reports dealing with ear abnormalities, the genotypic spectrum of CHD7 mutations was analyzed in deaf patients with CHARGE syndrome, and the clinical considerations concerning auditory rehabilitation were investigated.
|
21931733 |
2011 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
AlteredExpression
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group |
BEFREE |
The Chd7-positive regions in the chick embryos and the anatomical defects commonly seen in patients with CHARGE syndrome were well correlated: expression in the optic placode corresponded with defects such as coloboma, neural tube with mental retardation, and otic placode with ear abnormalities.
|
21338411 |
2011 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the chromodomain helicase DNA binding protein-7 (CHD7) cause CHARGE syndrome, which includes eye coloboma, heart malformations, atresia of the choanae, retardation of growth/development, genital anomalies, and ear abnormalities.
|
21856375 |
2011 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).
|
19251738 |
2009 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in CHD7, a chromodomain gene, are present in a majority of individuals with CHARGE syndrome, a multiple anomaly disorder characterized by ocular Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia and Ear anomalies.
|
19279158 |
2009 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
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group |
BEFREE |
Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis.
|
18386809 |
2008 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Further fine mapping in the region revealed significant evidence of disease-associated haplotypes (P<1.0 x 10-4) centering over exons 2-4 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome of multiple developmental anomalies.
|
17436250 |
2007 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities).
|
16615981 |
2006 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CHD7 mutations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies or deafness).
|
16932062 |
2006 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
|
group |
BEFREE |
The human CHD7 gene is known to be involved in CHARGE syndrome, which also shows inner ear malformations and a variety of other features with varying penetrance and appears to be due to frequent de novo mutation.
|
16207732 |
2005 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
|
group |
BEFREE |
CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities.
|
7613237 |
1995 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
|
group |
BEFREE |
A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome.
|
1981467 |
1991 |
Congenital ear anomaly NOS (disorder)
|
0.200 |
Biomarker
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group |
HPO |
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