Table 1.
Genes and proteins associated with various Usher syndrome subtypes.
| Type | Subtype (OMIM REF.) | Gene | Protein | % Cases* | Transcripts | Major transcript | Exons |
|---|---|---|---|---|---|---|---|
| 1 | 1B (#276900) | MYO7A | MYOSIN 7A | 21 | 14 | 7,483 bp; NM_000260.4 | 56 |
| 1C (#276904) | USH1C | HARMONIN | 2 | 11 | 2,232 bp; NM_005709.4 | 29 | |
| 1D (#601067) | CDH23 | CADHERIN 23 | 6 | 19 | 11,138 bp; NM_022124.6 | 71 | |
| 1F (#602083) | PCDH15 | PROTOCADHERIN 15 | 3 | 36 | 6,983 bp; NM_001142763.2 | 48 | |
| 1G (#606943) | USH1G | SANS | 1 | 2 | 3,558 bp; NM_173477.5 | 4 | |
| 2 | 2A (#276901) | USH2A | USHERIN | 50 | 5 | 6,372 bp; NM_007123.6 | 72 |
| 2C (#605472) | ADGRV1 | ADHESION G-PROTEIN COUPLED RECEPTOR-V1 | 5 | 37 | 19,557 bp; NM_032119.4 | 91 | |
| 2D (#611383) | WHRN | WHIRLIN | 0.4 | 9 | 3,989 bp; XM_011518485.1 | 21 | |
| 3 | 3A (#276902) | CLRN1 | CLARIN-1 | 2 | 8 | 2,087 bp; NM_174878.3 | 6 |
| 3B (#614504) | HARS | HISTIDYL-TRNA SYNTHETASE | - | 16 | 1,948 bp; NM_002109.6 | 13 | |
| Modifier | - | PDZD7** |
*Frequencies were calculated in a 2019 study (Jouret et al., 2019) of 684 patients with dual vision and hearing loss. A proportion of these patients did not have mutations in any of the Usher genes tested. Candidate genes are not shown. **Denotes the modifier gene PDZD7, which contributes to the phenotype of Usher 2A patients through interactions with USHERIN, but is not independently causal of Usher syndrome (Ebermann et al., 2010).