Usher's syndrome

From Ganfyd

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
    • Usher's syndrome type 2
      • USH2A - most common form is due to a mutation of the gene coding for usherin on chromosome 1q41 which causes up to 40% of all autosomal recessive presentations of retinitis pigmentosa.
      • USH2B - maps to 3p24.2-p23
      • USH2C - mutations Very large G protein-coupled receptor-1(VLGR1) gene at 5q14.
  • 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