|
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7.
|
21158681 |
2010 |
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene.
|
21931733 |
2011 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome.
|
20624498 |
2011 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of CHH patients with pathogenic or likely pathogenic CHD7 variants, 80% (4/5) were found to exhibit multiple CHARGE features, and 3 of these patients were reclassified as having CHARGE syndrome.
|
29144511 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lastly, we propose a revision to current clinical diagnostic criteria, including broadening of the major features associated with CHARGE syndrome and addition of pathogenic CHD7 variant status as a major criterion.
|
26590800 |
2016 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations and deletions of CHD7 have recently been identified as causing CHARGE syndrome in more than 50% of tested patients.
|
15637730 |
2005 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected.
|
27875026 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results provide further support for the notion that KS phenotype can be included in the phenotypic spectrum of CHARGE syndrome, and indicate that CHARGE syndrome with KS phenotype is caused by a CHD7 mutation.
|
16960397 |
2006 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to investigate the phenotype spectrum of neonatal patients suspected to have CHARGE syndrome with pathogenic or likely pathogenic variants in the CHD7 gene.
|
31146700 |
2019 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that a germline mutation in CHD7 or other similar regulatory gene causative of CHARGE syndrome and craniofacial developmental abnormalities may have contributed to the unusual location of the teratoma in this case.
|
31797071 |
2020 |