Mutational spectrum in Usher syndrome type II

X. M. Ouyang, D. Yam, J. F. Hejtmancik, S. G. Jacobcon, A. R. Li, L. L. Du, S. Angeli, M. Kaiser, T. Balkany, Xue Zhong Liu

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Usher syndrome type II is an autosomal recessive disorder characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa (RP). We carried out a mutation screening of the USH2A gene in 88 probands with Usher syndrome type II to determine the frequency of USH2A mutations as a cause for USH2. Six mutations, including 2299delG, 921-922insCAGC, R334W, N346H, R626X, and N357T were identified, with 2299delG mutation being the most frequent (16.5% of alleles), accounting for 77.5% of the pathologic alleles. Thirty-five percent (31/88) of the probands had a USH2A mutation. Nine of them carried two pathogenic mutations: six cases were homozygotes and three were compound heterozygotes. Twenty-two probands (25%) were found to carry only single USH2A mutations. One new missense mutation (N357T) occuring within the laminin N-terminal (type VI) domain of usherin was identified. Eight polymorphisms were found, five of which are novel. Our data support the view that the 2299delG is the most common mutation in USH2A.

Original languageEnglish (US)
Pages (from-to)288-293
Number of pages6
JournalClinical Genetics
Volume65
Issue number4
DOIs
StatePublished - Apr 1 2004

Keywords

  • USH2
  • USH2A
  • Usher syndrome
  • Usherin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Ouyang, X. M., Yam, D., Hejtmancik, J. F., Jacobcon, S. G., Li, A. R., Du, L. L., Angeli, S., Kaiser, M., Balkany, T., & Liu, X. Z. (2004). Mutational spectrum in Usher syndrome type II. Clinical Genetics, 65(4), 288-293. https://doi.org/10.1046/j.1399-0004.2004.00216.x