Usher syndrome
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
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 |