CHD7

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the CHD7 gene.

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome.

Model organisms

Chd7 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Abnormal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Abnormal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Abnormal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of CHD7 function. A conditional knockout mouse line, called Chd7^{tm2a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

File:Bergmeisters papilla x 6.jpg

Bergmeister's papilla, histological section.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and five significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. Male heterozygotes displayed abnormal pelvic elevation in a modified SHIRPA test and have a high incidence of Bergmeister's papilla in both eyes. When the brains of heterozygous animals were studied, an absence of corpus callosum was observed.

Further reading

• Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D (Aug 2007). "Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability". Clinical Genetics. 72 (2): 112–21. doi:10.1111/j.1399-0004.2007.00821.x. PMID 17661815.
• Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K (Nov 2007). "Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype". American Journal of Medical Genetics Part A. 143A (22): 2712–5. doi:10.1002/ajmg.a.32008. PMID 17937444.
• Holak HM, Kohlhase J, Holak SA, Holak NH (Jun 2008). "New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene". Ophthalmic Genetics. 29 (2): 79–84. doi:10.1080/13816810801918391. PMID 18484313.
• Sanlaville D, Verloes A (Apr 2007). "CHARGE syndrome: an update". European Journal of Human Genetics. 15 (4): 389–99. doi:10.1038/sj.ejhg.5201778. PMID 17299439.
• Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC (Oct 2008). "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome". American Journal of Human Genetics. 83 (4): 511–9. doi:10.1016/j.ajhg.2008.09.005. PMC 2561938. PMID 18834967.
• Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML, Murray JC (Apr 2009). "Determination of genetic predisposition to patent ductus arteriosus in preterm infants". Pediatrics. 123 (4): 1116–23. doi:10.1542/peds.2008-0313. PMC 2734952. PMID 19336370.
• Wincent J, Schulze A, Schoumans J (2009). "Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype". European Journal of Medical Genetics. 52 (4): 271–2. doi:10.1016/j.ejmg.2009.02.005. PMID 19248844.
• Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J (Jul 2008). "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome". Clinical Genetics. 74 (1): 31–8. doi:10.1111/j.1399-0004.2008.01014.x. PMID 18445044.
• Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D (Jul 2008). "Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome". Clinical and Experimental Immunology. 153 (1): 75–80. doi:10.1111/j.1365-2249.2008.03681.x. PMC 2432100. PMID 18505430.
• Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S (Apr 1998). "CHARGE syndrome: report of 47 cases and review". American Journal of Medical Genetics. 76 (5): 402–9. doi:10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O. PMID 9556299.
• Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH (Jan 2009). "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome". Clinical Genetics. 75 (1): 65–71. doi:10.1111/j.1399-0004.2008.01107.x. PMC 2854009. PMID 19021638.
• Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM (Jan 2008). "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability". American Journal of Medical Genetics Part A. 146A (1): 43–50. doi:10.1002/ajmg.a.31921. PMID 18074359.
• Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA (Oct 2008). "A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features". Clinical Dysmorphology. 17 (4): 249–53. doi:10.1097/MCD.0b013e328306a704. PMID 18978652.
• Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM (2008). "Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome". European Journal of Medical Genetics. 51 (5): 417–25. doi:10.1016/j.ejmg.2008.03.003. PMID 18472328.
• Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS (Mar 2009). "Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome". Clinical Genetics. 75 (3): 290–3. doi:10.1111/j.1399-0004.2008.01127.x. PMID 19159393.
• Qi Q, Yi L, Yang C, Chen H, Shen L, Mo X, Hu Y, Wang Y (Dec 2008). "[Mutation analysis of the CHD7 gene in patients with congenital heart disease]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 25 (6): 637–41. PMID 19065520.
• Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC (2007). "Immunological abnormalities in CHARGE syndrome". European Journal of Medical Genetics. 50 (5): 338–45. doi:10.1016/j.ejmg.2007.05.002. PMID 17684005.
• Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J (Oct 2007). "Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions". Genetics in Medicine. 9 (10): 690–4. doi:10.1097/GIM.0b013e318156e68e. PMID 18073582.
• Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM (Jun 2009). "Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome". Human Molecular Genetics. 18 (11): 1909–23. doi:10.1093/hmg/ddp112. PMC 2678924. PMID 19279158.
• Buck, Cassandra; Balasubramanian, Ravikumar; Crowley, Jr, William F (2013-07-18). Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. NBK1334. In Pagon RA, Bird TD, Dolan CR, eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
• Lalani SR, Hefner MA, Belmont JW, Davenport SL (2012-02-02). CHARGE Syndrome. NBK1117. In GeneReviews
• Bardakjian T, Weiss A, Schneider AS (2006-05-26). Anophthalmia/Microphthalmia Overview. NBK1378. In GeneReviews

External links

• CHD7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human CHD7 genome location and CHD7 gene details page in the UCSC Genome Browser.