Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

A. Oshima, T. Jaijo, E. Aller, J. M. Millan, C. Carney, S. Usami, C. Moller, William J Kimberling

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already screened for mutations in MYO7A. A total of 18 of 56 subjects (32.1%) were observed to have one or two CDH23 variants that are presumed to be pathologic. Twenty one different pathologic genome variants were observed of which 15 were novel. Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations. (c) 2008 Wiley-Liss, Inc.

Original languageEnglish (US)
JournalHuman mutation
Volume29
Issue number6
DOIs
StatePublished - Jan 1 2008

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Usher Syndromes
Mutation
Genes
Deafness
Exons
Alleles
Genome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Oshima, A., Jaijo, T., Aller, E., Millan, J. M., Carney, C., Usami, S., ... Kimberling, W. J. (2008). Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Human mutation, 29(6). https://doi.org/10.1002/humu.20761

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. / Oshima, A.; Jaijo, T.; Aller, E.; Millan, J. M.; Carney, C.; Usami, S.; Moller, C.; Kimberling, William J.

In: Human mutation, Vol. 29, No. 6, 01.01.2008.

Research output: Contribution to journalArticle

Oshima, A, Jaijo, T, Aller, E, Millan, JM, Carney, C, Usami, S, Moller, C & Kimberling, WJ 2008, 'Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.', Human mutation, vol. 29, no. 6. https://doi.org/10.1002/humu.20761
Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S et al. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Human mutation. 2008 Jan 1;29(6). https://doi.org/10.1002/humu.20761
Oshima, A. ; Jaijo, T. ; Aller, E. ; Millan, J. M. ; Carney, C. ; Usami, S. ; Moller, C. ; Kimberling, William J. / Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. In: Human mutation. 2008 ; Vol. 29, No. 6.
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