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Original Article

A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family

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Pages 4-7 | Accepted 05 Nov 2010, Published online: 18 Nov 2010

References

  • WHO. Primary Ear and Hearing Care Training Resource. Advanced Level. Geneva: World Health Organization; 2006. http://www.who.int/pbd/deafness/activities/hearing_care/advanced.pdf
  • Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16–31.
  • van Camp G, Smith RJ. Hereditary Hearing Loss Homepage; http://hereditaryhearingloss.org/ 2007.
  • Trexler M, Bányai L, Patthy L. The LCCL module. Eur J Biochem. 2000;267:5751–7.
  • van der Plas RM, Gomes L, Marquart JA, Vink T, Meijers JC, de Groot PG, . Binding of von Willebrand factor to collagen type III: role of specific amino acids in the collagen binding domain of vWF and effects of neighbouring domains. Thromb Haemost. 2000;84:1005–11.
  • Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulphide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Am J Med Genet A. 2005;139:86–95.
  • Yuan HJ, Han DY, Sun Q, Yan D, Sun HJ, Tao R, . Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. Clin Genet. 2008;73:391–4.
  • O'Connell JR, Weeks DE. PedCheck: a program for identifying genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998;63:259–66.
  • Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin: rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97–101.
  • Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, . High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet. 2000;106:399–405.
  • Kamarinos M, McGill J, Lynch M, Dahl H. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat. 2001;17:351.

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