Gene Symbol: Chd7
Description: chromodomain helicase DNA binding protein 7
Alias: chromodomain-helicase-DNA-binding protein 7
Species: rat
Products:     Chd7

Top Publications

  1. Tellier A, Cormier Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet. 1998;76:402-9 pubmed
  2. Pau H, Hawker K, Fuchs H, de Angelis M, Steel K. Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. Otol Neurotol. 2004;25:707-13 pubmed
    ..Furthermore, we asked whether the mutation responsible for the defects was located in the same region of mouse chromosome 4 as several other mouse mutations that we have previously described...
  3. Bosman E, Penn A, Ambrose J, Kettleborough R, Stemple D, Steel K. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet. 2005;14:3463-76 pubmed
    ..Here, we report the identification of mutations in the Chd7 gene in nine of these mutant alleles including six nonsense and three splice site mutations...
  4. Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett A, et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest. 2009;119:3301-10 pubmed publisher
    ..One individual displayed hemizygous CHD7, which encodes a chromodomain protein...
  5. Layman W, McEwen D, Beyer L, Lalani S, Fernbach S, Oh E, et al. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009;18:1909-23 pubmed publisher
    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, ..
  6. Payne S, Burney M, McCue K, Popal N, Davidson S, Anderson R, et al. A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development. Dev Biol. 2015;405:82-95 pubmed publisher
    ..loss-of-function mutations to the ATP-dependant chromatin remodeller chromodomain-helicase-DNA-binding protein 7 (CHD7). It is characterised by a distinct pattern of congenital anomalies, including cardiovascular malformations...
  7. Li W, Xiong Y, Shang C, Twu K, Hang C, Yang J, et al. Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell development. Proc Natl Acad Sci U S A. 2013;110:1738-43 pubmed publisher
    ..Within NCCs, Brg1 partners with chromatin remodeler Chromodomain-helicase-DNA-binding protein 7 (Chd7) on the PlexinA2 promoter to activate PlexinA2, which encodes a receptor for semaphorin to guide NCCs into the OFT...
  8. Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert Dussardier B, et al. Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. J Mol Diagn. 2012;14:46-55 pubmed publisher
    ..deafness (CHARGE) syndrome is a rare, usually sporadic, autosomal dominant disorder, caused by mutations within the CHD7 (chromodomain helicase DNA-binding protein 7) gene, in nearly 70% of cases...
  9. Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, et al. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet. 2008;74:31-8 pubmed publisher
    ..Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome...

More Information


  1. 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.
  2. 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...
  3. 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 ..
  4. 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 publisher
    CHARGE 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...
  5. 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 publisher
    CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsufficiency of the CHD7 gene...
  6. 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 publisher
    CHARGE 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...
  7. 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 ..
  8. 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...
  9. 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...