|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Simultaneously, a de novo splicing acceptor alteration in c.7165-4 A>G, in chromodomain helicase DNA binding protein-7 (CHD7), located in chromosome 8q12 was detected, and the patient was diagnosed with 21-OHD and CS.
|
31060112 |
2019 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to these neurodevelopmental features, a wide range of other developmental defects are associated with mutants of these genes, especially with regards to CHD7 haploinsufficiency, which is the primary cause of CHARGE syndrome.
|
30277262 |
2018 |
|
CHARGE Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
We found widespread expression of Chd7 in early development of the mouse in organs affected in CHARGE syndrome including eye, olfactory epithelium, inner ear and vascular system.
|
16207732 |
2005 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our mutation detection rate of 40.5% is reflective of screening an unselected sample population referred for CHD7 testing based on suspected clinical diagnosis of CHARGE syndrome and not for having met strict clinical criteria for this disorder.
|
18073582 |
2007 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four patients had combined pituitary hormone deficiency, and one had CHARGE syndrome due to a CHD7 mutation.
|
31067328 |
2019 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe 'Trooper', a novel mouse model of CHARGE syndrome harbouring a pathogenic point mutation in Chd7.
|
29615807 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The coding regions of CHD7 were screened for mutations in 107 index patients with clinical features suggestive of CHARGE syndrome.
|
16155193 |
2006 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we will summarize our current understanding of the function of CHD7 in neural crest development and discuss possible links of CHARGE syndrome to other developmental disorders.
|
29082625 |
2017 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
|
24026680 |
2014 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a retrospective study of 40 cases of CHARGE syndrome with a CHD7 mutation, including 10 previously reported fetuses, in which fetal or neonatal clinical, radiological and histopathological examinations were performed.
|
23024289 |
2012 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to our seven previously reported cases, we identified an additional six with 22q11.2DS and another coexisting condition identified via: molecular/cytogenetic studies, newborn screening, coagulation factor studies, or enzyme testing; these include CHARGE syndrome (CHD7 mutation), cystic fibrosis, a maternally inherited 17q12 deletion, G6PD deficiency, von Willebrand disease, and 1q21.1 deletion, resulting in an incidence of dual diagnoses at our center of 0.9%.
|
30244528 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome.
|
24979395 |
2014 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, this is the second case with an entire deletion of the CHD7 gene not leading to CHARGE syndrome and, for this reason, useful to expand and further delineate the clinical features associated with the 8q12.1q12.3 deletion.
|
23142376 |
2013 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability.
|
26813943 |
2016 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identifying that the translocation breakpoint in our patients occurred between exons 3 and 8 of CHD7 suggests that disruption of this gene is the cause of CHARGE syndrome in the twins and independently confirms the role of CHD7 in CHARGE syndrome.
|
16118347 |
2006 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present two patients with CHARGE syndrome confirmed CHD7 mutations who had severe T-cell deficiency, and review 15 CHARGE patients from the literature with immunological problems.
|
17684005 |
2007 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHD7 variants contribute to >60% CHARGE syndrome and ~10% IHH patients.
|
31689711 |
2020 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We performed a phenotypic characterization and genetic analysis of CHD7 in 18 Korean patients with CHARGE syndrome.
|
26538304 |
2016 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together this represents the first evidence for a CHD7 intragenic CGR in a patient with CHARGE syndrome leading to what appears to be also the first report of a mutation specifically disrupting exon-7.
|
23956205 |
2013 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7.
|
29330883 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over-representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome.
|
31833191 |
2020 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our cohort, 65% (15/23) of individuals with CHARGE syndrome were found to have a pathogenic CHD7 variant.
|
29191495 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study demonstrates the importance of mutational screening of CHD7 in patients who have been diagnosed with other syndromes but display clinical features of CHARGE syndrome.
|
23333604 |
2013 |