Reviewed May 2008
What is the official name of the CHD7 gene?
The official name of this gene is “chromodomain helicase DNA binding protein 7.”
CHD7 is the gene's official symbol. The CHD7 gene is also known by other names, listed below.
What is the normal function of the CHD7 gene?
The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. The CHD7 protein belongs to a family of proteins that are thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The CHD7 protein most likely regulates gene activity (expression) by a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Studies have shown that the CHD7 gene is expressed in many fetal tissues, including the eye, inner ear, and brain cells that process smell (olfactory bulb).
How are changes in the CHD7 gene related to health conditions?
- CHARGE syndrome - caused by mutations in the CHD7 gene
Mutations in the CHD7 gene are found in approximately 60 percent to 65 percent of individuals with CHARGE syndrome. At least 150 mutations have been found throughout the gene. Most mutations lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.
Where is the CHD7 gene located?
Cytogenetic Location: 8q12.2
Molecular Location on chromosome 8: base pairs 60,678,761 to 60,868,027
The CHD7 gene is located on the long (q) arm of chromosome 8 at position 12.2.
More precisely, the CHD7 gene is located from base pair 60,678,761 to base pair 60,868,027 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CHD7?
You and your healthcare professional may find the following resources about CHD7 helpful.
Educational resources - Information pages
- Genomes (second edition, 2002): Accessing the Genome (http://www.ncbi.nlm.nih.gov/books/NBK21137/)
- Genomes (second edition, 2002): Packaging of DNA into Chromosomes (http://www.ncbi.nlm.nih.gov/books/NBK21120/)
- Molecular Biology of the Cell (fourth edition, 2002): ATP-driven Chromatin Remodeling Machines Change Nucleosome Structure (http://www.ncbi.nlm.nih.gov/books/NBK26834/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1117)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CHD7 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=55636%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28CHD7%5BTIAB%5D%29%20OR%20%28chromodomain%20helicase%20DNA%20binding%20protein%207%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608892)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CHD7.html)
- HGNC Gene Family: SANT/Myb domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/532)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=20626)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55636)
What other names do people use for the CHD7 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CHD7?
chromatin remodeling ;
gene expression ;
olfactory bulb ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Gene Review: CHARGE Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1117)
- Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006 Apr;43(4):306-14. Epub 2005 Sep 9. (http://www.ncbi.nlm.nih.gov/pubmed/16155193?dopt=Abstract)
- Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29. (http://www.ncbi.nlm.nih.gov/pubmed/16400610?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55636)
- Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006 Mar;43(3):211-217. Epub 2005 Sep 16. (http://www.ncbi.nlm.nih.gov/pubmed/16169932?dopt=Abstract)
- Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004 Sep;36(9):955-7. Epub 2004 Aug 8. (http://www.ncbi.nlm.nih.gov/pubmed/15300250?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.