Usher's syndrome

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Mutations of the USH genes which may result in one of other of:

  • Retinitis pigmentosa
  • Hearing impairment
    • Severe, congenital and with vestibular ataxia
      • Usher's syndrome type 1
        • USH1B - mutation in MYO7A (Myosin VIIA) gene on chromosome 11q13.5
        • USH1C - 'Acadian variety,' mutation in harmoningene on 11p15.1
        • USH1D - mutation in cadherin-23 (CDH23) gene on 10q21-q22
        • USH1E - maps to 21q21
        • USH1F - mutation in protocadherin-15 gene 10q21-q22.
        • USH1G - mutation in SANS (Scaffold protein containing ankyrin repeats and SAM domain ) gene on 17q24-q25
    • Mild to moderate
    • Late onset gradual
      • Usher's syndrome type 3 assigned to gene at locus 3q21-q25

Named after Charles Usher [1], a British ophthalmologist although first recognised before this date.

References

  1. Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 1914; 19: 130-236.
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