Genomes and Genes
Gene Symbol: Chd7
Description: chromodomain helicase DNA binding protein 7
Alias: chromodomain-helicase-DNA-binding protein 7
- Jongmans M, Admiraal R, van der Donk K, Vissers L, Baas A, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006;43:306-14 pubmed..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome.
- Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A. 2007;143A:2712-5 pubmed..Three different heterozygous truncating mutations in the CHD7 gene were detected...
- Writzl K, Cale C, Pierce C, Wilson L, Hennekam R. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. 2007;50:338-45 pubmed..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 ..
- Batsukh T, Pieper L, Koszucka A, von Velsen N, Hoyer Fender S, Elbracht M, et al. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet. 2010;19:2858-66 pubmed publisherCHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g...
- Cho H, Song M, Choi S, Kim J, Lee J, Kim U, et al. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Gene. 2013;517:164-8 pubmed publisherCHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsufficiency of the CHD7 gene...
- Ogier J, Carpinelli M, Arhatari B, Symons R, Kile B, Burt R. CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. PLoS ONE. 2014;9:e97559 pubmed publisherCHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies...
- Vissers L, van Ravenswaaij C, Admiraal R, Hurst J, de Vries B, Janssen I, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-7 pubmed..Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected ..
- Vuorela P, Ala Mello S, Saloranta C, Penttinen M, Poyhonen M, Huoponen K, et al. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med. 2007;9:690-4 pubmed..cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and is caused by mutations in the CHD7 gene...
- Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, et al. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Eur J Med Genet. 2010;53:280-5 pubmed publisher..Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome...