Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

Eur J Hum Genet. 2004 May;12(5):407-10. doi: 10.1038/sj.ejhg.5201138.


The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH syndrome, whereas the C759F mutation, regardless of being associated with the 2299delG mutation or not, was identified in cases with nonsyndromic RP, as well as in patients with RP associated with a variability of hearing impairment. The comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with RP may depend on the nature and on the association of the USH2A allele variants present.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Gene Frequency
  • Genotype
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Mutation, Missense*
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa / complications
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Sequence Deletion*
  • Spain


  • Extracellular Matrix Proteins
  • USH2A protein, human
  • DNA