Mutational spectrum in Usher syndrome type II

Clin Genet. 2004 Apr;65(4):288-93. doi: 10.1046/j.1399-0004.2004.00216.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Case-Control Studies
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Gene Frequency
  • Hearing Loss / genetics*
  • Humans
  • Mutation*
  • North America
  • Polymorphism, Genetic
  • Retinitis Pigmentosa / genetics*
  • Syndrome
  • United Kingdom


  • Extracellular Matrix Proteins
  • USH2A protein, human