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Usher syndrome

From SNPedia
(Redirected from Usher Syndrome)

http://en.wikipedia.org/wiki/Usher_syndrome

http://www.nidcd.nih.gov/health/hearing/pages/usher.aspx

Usher syndrome results in a combination of hearing loss and visual impairment, and is a leading cause of deafblindness. Adapted from [1] and more recent information, the following table outlines the major subtypes of Usher syndrome with their molecular basis and clinical consequences.

Clinical Type Subtype Gene Hearing loss Vestibular Function Night Blindness Onset
1 1B MYO7A Profound Absent 1st decade
1c USH1C Profound Absent 1st decade
1D CDH23 Profound Absent 1st decade
1F PCDH15 Profound Absent 1st decade
1G SANS Profound Absent 1st decade
2 2A USH2A Moderate/Progressive? Normal 2nd decade
2C VLGR1 Sloping moderate Normal 2nd decade
2D WHRN Sloping moderate Normal 2nd decade
3 3A CLRN1 Progressive Variable 2nd decade