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Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion Cover

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Open Access
|Dec 2015

References

  1. 1. Burkitt Wright EMM, O’Connor R, Kerr BA. Radial aplasia in CHARGE syndrome: a new association. Eur J Med Genet. 2009; 52(4): 239-241.10.1016/j.ejmg.2009.03.017
  2. 2. Koletzko B, Majewski F Congenital anomalies in patients with choanal atresia: CHARGE-association. Eur J Pediatr. 1984; 142(4): 271-275.10.1007/BF00540250
  3. 3. Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008; 83(4): 511-519.10.1016/j.ajhg.2008.09.005
  4. 4. Vervloed MPJ, Hoevenaars-van den Boom MAA, Knoors H, van Ravenswaaij CMA, Admiraal RJC. CHARGE syndrome: Relations between behavioral characteristics and medical conditions. Am J Med Genet. 2006; 140A(8): 851-862.10.1002/ajmg.a.31193
  5. 5. Graham JM. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet. 2001; 99(2): 120-123.10.1002/1096-8628(2000)9999:999<;00::AID-AJMG1132>3.0.CO;2-J
  6. 6. Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: a review. J Paediatr Child Health. 2014; 50(7): 504-511.10.1111/jpc.12497
  7. 7. Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, (see above) et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010; 463(7283): 958-62.10.1038/nature08733
  8. 8. Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM. CHD7 muttions and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol. 2014; 35(8): 1466-1470.10.1097/MAO.0000000000000260
  9. 9. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, et al. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013; 161A(12): 3182-3186.10.1002/ajmg.a.36178
  10. 10. Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012; 33(8): 1149-1160.10.1002/humu.22086
  11. 11. Verloes A. Updated diagnostic criteria for CHARGE syndrome: aproposal. Am J Med Genet A. 2005; 133A(3): 306-308.10.1002/ajmg.a.3055915666308
  12. 12. Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. Am J Med Genet A. 2005; 133A(3): 309-317.10.1002/ajmg.a.3056015637722
  13. 13. 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(5): 280-285.10.1016/j.ejmg.2010.07.00220624498
  14. 14. Mitchell JA, Giangiacomo J, Hefner MA, Thelin JW, Pickens JM. Dominant CHARGE association. Ophthalmic Paediatr Genet. 1985; 6(1-2): 271-276.10.3109/13816818509004114
  15. 15. Martinez-Quintana E, Rodriguez-Gonzalez F, Garay-Sanchez P, Tugores A. Novel frameshift CHD7 mutation related to CHARGE syndrome. Mol Syndromol. 2014; 5(1): 36-40.10.1159/000355431
  16. 16. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, et al. Spec trum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78(2): 303-314.10.1086/500273138023716400610
  17. 17. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr. 2006; 148(3): 410-414.10.1016/j.jpeds.2005.10.04416615981
  18. 18. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr. 1998; 37(3): 159-173.10.1177/0009922898037003029545604
  19. 19. Saladi SV, de la Serna IL. ATP dependent chromatin remodeling enzymes in emryonic stem cells. Stem Cell Rev. 2010; 6(1): 62-73.10.1007/s12015-010-9120-y286299220148317
  20. 20. Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet. 2005; 14(22): 3463-3476.10.1093/hmg/ddi37516207732
  21. 21. Bouazoune K, Kingston RE. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. Proc Natl Acad Sci USA. 2012; 109(47): 19238-19243.10.1073/pnas.1213825109351109723134727
  22. 22. Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen 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(10): 690-694.10.1097/GIM.0b013e318156e68e18073582
  23. 23. Chen JM, Férec C, Cooper DN. Patterns and mutational signatures of tandem base substitutions causing human inherited disease. Hum Mutat. 2013; 34(8): 1119-1130.10.1002/humu.2234123606422
  24. 24. Chen JM1, Férec C, Cooper DN. Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutat Res. 2012; 750(1): 52-59.10.1016/j.mrrev.2011.10.00222100908
  25. 25. Johnson D, Morrison N, Grant L, Turner T, Fantes J, Connor JM, et al. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet. 2006; 43(3): 280-284. 10.1136/jmg.2005.032946256325116118347
Language: English
Page range: 65 - 70
Published on: Dec 30, 2015
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2015 Ozlem Giray Bozkaya, E. Ataman, C. Randa, D. Onur Cura, S. Gürsoy, O. Aksel, A. Ulgenalp, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.