Table 1.
The subtypes of USH and their known associated genes and proteins.
| Subtype | Locus | Location | Gene | Protein | Expression in inner ear |
|---|---|---|---|---|---|
| USH1 | USH1A | Withdrawn | |||
| USH1B | 11q13.5 | MYO7A | Myosin VIIa | throughout hair cells HC | |
| USH1C | 11p15.1 | USH1C | Harmonin | Upper tip link density UTLD, HC synapses | |
| USH1D | 10q22.1 | CDH23 | Cadherin 23 | Development: transient lateral links and kinociliary links, HC synapses Postnatal: tip links, HC synapses |
|
| USH1E | 21q21 | USH1E | n/a | ||
| USH1F | 10q21.1 | PCDH15 | Protocadherin 15 | Development: transient lateral links and kinociliary links, HC synapses Postnatal: tip links, HC synapses |
|
| USH1G | 17q25.1 | USH1G | SANS | Upper tip link density UTLD | |
| USH1H | 15q22-23 | USH1H | n/a | ||
| USH1J | 15q25.1 | CIB2/DFNB48 | CIB2 | stereocilia, esp. tip | |
| USH1K | 10p11.21-q21.2 | USH1K | n/a | ||
| USH2 | USH2A | 1q41 | USH2A | Usherin | Development: ankle links, HC synapses Postnatal: hair bundles, HC synapses |
| USH2B | Withdrawn | ||||
| USH2C | 5q14.3-21.3 | GPR98 (also known as ADGRV1) | ADGRV1 | Development: ankle links, HC synapses Postnatal: HC synapses | |
| USH2D | 9q32-q34 | DFNB31 (also known as WHRN) | Whirlin | Development: ankle links, HC synapses Postnatal: stereociliary tip, HC synapses | |
| USH3 | USH3A | 3q21-q25 | CLRN-1 | Clarin-1 | hair bundles, spiral ganglion, HC synapses |
| USH3B | 5q31.3 | HARS | HARS | supporting cells | |
| n/a | n/a | n/a | PDZD7 | PDZD7 | Development: ankle links |