|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mounting evidence indicates that chromatin remodelers play important roles during normal development and their mutations are associated with neurodevelopmental defects, with CHD7 haploinsuficiency being the cause of CHARGE syndrome and CHD8 being one of the strongest autism spectrum disorder (ASD) high-risk-associated genes.
|
30108144 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chromodomain helicase DNA binding protein-7 (CHD7) is a major causative gene of CHARGE syndrome.
|
29355723 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations were identified in three families (n = 3/33, 9.1%), including mutations in DNAH11, RAF1 and CHD7, which were associated with primary ciliary dyskinesia, Noonan syndrome, and CHARGE syndrome, respectively.
|
30359267 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Moreover, the T-cell reduction in chd7-deficient embryos was partially rescued by overexpressing foxn1, suggesting that restoring thymic epithelium may be a potential therapeutic strategy for treating immunodeficiency in CHARGE syndrome.
|
29353058 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene.
|
29255276 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Meanwhile, data suggested that mutation in the CHD7 gene could be detected in the setting of incomplete clinical manifestations of CHARGE syndrome, or without the usually believed manifestations of combined deafness as well as morphological abnormalities of the ear, providing new evidence for the differential diagnosis of KS with CHARGE syndrome in the future.
|
29979396 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The six pathogenic variations were identified on the genes CHD7 (CHARGE syndrome), CITED2 (tetralogy of Fallot, ventricular septal defect and atrial septal defect), ZFPM2 (tetralogy of Fallot), MYH6 (atrial septal defect, familial isolated dilated cardiomyopathy) and, in two cases, KMT2D (Kabuki syndrome).
|
29536580 |
2018 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings further reveal that patients should not be rejected for CHD7 mutational analysis even if they do not fulfill CHARGE syndrome Verloes criteria.
|
29945602 |
2018 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of chd7 resulted in physically smaller GI tracts with normal epithelial and muscular histology, but decreased and disorganized vagal projections, particularly in the foregut. chd7 morphant larvae had significantly less ability to empty their GI tract of gavaged fluorescent beads, and this condition was only minimally improved by the prokinetic agents, domperidone and erythromycin, in keeping with mixed responses to these agents in patients with CHARGE syndrome.
|
29660852 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The goals of current research on CHD7 and CS are to (a) improve our understanding of the pathology caused by CHD7 pathogenic variants and (b) to provide better tools for prognosis and treatment.
|
29082607 |
2017 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chd7 haploinsufficiency in mouse is a good model for studying the heart effects seen in CHARGE syndrome, and mouse models reveal a role for Chd7 in multiple lineages during heart development.
|
29088513 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar development.
|
28317875 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder.
|
29152903 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7.
|
28165338 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene.
|
29178447 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation.
|
28155231 |
2017 |
|
CHARGE Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome.
|
29168327 |
2017 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
|
26663670 |
2016 |
|
CHARGE Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Considering its frequency among patients with CHD7 mutations, cerebellar vermis hypoplasia may be a clinical diagnostic clue of CHARGE syndrome, although it is not included in the diagnostic criteria.
|
26538304 |
2016 |
|
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 |
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 |