CHD7 explained
Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [1] that in humans is encoded by the CHD7 gene.[2] [3]
CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[4] Mutations in CHD7 are associated with CHARGE syndrome.[5] This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.
Clinical
Mutations in this gene have been associated with the CHARGE syndrome.
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 . Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability . Clinical Genetics . 72 . 2 . 112–21 . Aug 2007 . 17661815 . 10.1111/j.1399-0004.2007.00821.x . 8143298 .
- 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 . American Journal of Medical Genetics Part A . 143A . 22 . 2712–5 . Nov 2007 . 17937444 . 10.1002/ajmg.a.32008 . 21353716 .
- Holak HM, Kohlhase J, Holak SA, Holak NH . New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene . Ophthalmic Genetics . 29 . 2 . 79–84 . Jun 2008 . 18484313 . 10.1080/13816810801918391 . 205807551 .
- Sanlaville D, Verloes A . CHARGE syndrome: an update . European Journal of Human Genetics . 15 . 4 . 389–99 . Apr 2007 . 17299439 . 10.1038/sj.ejhg.5201778 . free .
- 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 . Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome . American Journal of Human Genetics . 83 . 4 . 511–9 . Oct 2008 . 18834967 . 2561938 . 10.1016/j.ajhg.2008.09.005 .
- Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML, Murray JC . Determination of genetic predisposition to patent ductus arteriosus in preterm infants . Pediatrics . 123 . 4 . 1116–23 . Apr 2009 . 19336370 . 2734952 . 10.1542/peds.2008-0313 .
- Wincent J, Schulze A, Schoumans J . Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype . European Journal of Medical Genetics . 52 . 4 . 271–2 . 2009 . 19248844 . 10.1016/j.ejmg.2009.02.005 .
- Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J . CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome . Clinical Genetics . 74 . 1 . 31–8 . Jul 2008 . 18445044 . 10.1111/j.1399-0004.2008.01014.x . 205406725 .
- 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 . 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 . Jul 2008 . 18505430 . 2432100 . 10.1111/j.1365-2249.2008.03681.x .
- 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 . CHARGE syndrome: report of 47 cases and review . American Journal of Medical Genetics . 76 . 5 . 402–9 . Apr 1998 . 9556299 . 10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O .
- 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 . CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome . Clinical Genetics . 75 . 1 . 65–71 . Jan 2009 . 19021638 . 2854009 . 10.1111/j.1399-0004.2008.01107.x .
- 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 . 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 . Jan 2008 . 18074359 . 10.1002/ajmg.a.31921 . 24479591 .
- Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA . A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features . Clinical Dysmorphology . 17 . 4 . 249–53 . Oct 2008 . 18978652 . 10.1097/MCD.0b013e328306a704 . 35257043 .
- Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM . 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 . 2008 . 18472328 . 10.1016/j.ejmg.2008.03.003 .
- Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS . Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome . Clinical Genetics . 75 . 3 . 290–3 . Mar 2009 . 19159393 . 10.1111/j.1399-0004.2008.01127.x . 43480931 .
- Qi Q, Yi L, Yang C, Chen H, Shen L, Mo X, Hu Y, Wang Y . [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 . Dec 2008 . 19065520 .
- Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC . Immunological abnormalities in CHARGE syndrome . European Journal of Medical Genetics . 50 . 5 . 338–45 . 2007 . 17684005 . 10.1016/j.ejmg.2007.05.002 .
- Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones . DNA Research . 9 . 3 . 99–106 . Jun 2002 . 12168954 . 10.1093/dnares/9.3.99 . free .
- 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 . 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 . Oct 2007 . 18073582 . 10.1097/GIM.0b013e318156e68e . free .
- Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM . 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 . Jun 2009 . 19279158 . 2678924 . 10.1093/hmg/ddp112 .
- Book: Cassandra . Buck . Ravikumar . Balasubramanian . William F . Crowley, Jr . 2013-07-18 . Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency . University of Washington, Seattle . 20301509 . NBK1334 . In Book: Pagon RA, Bird TD, Dolan CR . GeneReviews . 1993 . University of Washington, Seattle . Seattle WA . 20301295 . . Adam . M. P. . Everman . D. B. . Mirzaa . G. M. . Pagon . R. A. . Wallace . S. E. . Bean LJH . Gripp . K. W. . Amemiya . A. .
- Book: Seema R . Lalani . Margaret A . Hefner . John W . Belmont . Sandra LH . Davenport . 2012-02-02 . CHARGE Syndrome . CHD7 Disorder . University of Washington, Seattle . 20301296 . NBK1117 . vanc . In
- Book: Tanya . Bardakjian . Avery . Weiss . Adele S . Schneider . 2006-05-26 . Anophthalmia/Microphthalmia Overview . Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY . University of Washington, Seattle . 20301552 . NBK1378 . vanc . In
Notes and References
- Bouazoune . K . Kingston . RE . Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. . Proceedings of the National Academy of Sciences of the United States of America . 20 November 2012 . 109 . 47 . 19238–43 . 10.1073/pnas.1213825109 . 23134727. 3511097 . 2012PNAS..10919238B . free .
- Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O . Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 7 . 1 . 65–73 . Feb 2000 . 10718198 . 10.1093/dnares/7.1.65 . free .
- Web site: Entrez Gene: chromodomain helicase DNA binding protein 7.
- Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J . CHD7 cooperates with PBAF to control multipotent neural crest formation . Nature . 463 . 7283 . 958–62 . Feb 2010 . 20130577 . 2890258 . 10.1038/nature08733 . 2010Natur.463..958B .
- 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 . Nature Genetics . 36 . 9 . 955–7 . Sep 2004 . 15300250 . 10.1038/ng1407 . free .