Table 2 Genotypes of patients with Usher syndrome type 1B.
| Genotype/patient | Mutation 1 | Mutation 2 | Origin |
|---|---|---|---|
| Homozygous | |||
| RP‐1264 | c.5835_5838delCTTT | c.5835_5838delCTTT | Italy |
| RP‐1283* | p.P132L | p.P132L | Spain |
| RP‐1301 | c.2283‐1G>T | c.2283‐1G>T | Morocco |
| RP‐1340* | p.I219_H220del | p.I219_H220del | Spain |
| RP‐1356 | p.I1045T/p.L1836P | p.I1045T/p.L1836P | Italy |
| RP‐1462* | p.R241G | p.R241G | Italy |
| Compound heterozygous | |||
| RP‐1252* | c.3764delA | p.R1861X | Spain |
| RP‐1266* | p.A26E | p.L366P | Italy |
| RP‐1268 | p.N330QfsX5 | p.R1240Q | Italy |
| RP‐1269 | p.R241G | c.6025delG | Italy |
| RP‐1271 | p.R241G | p.G1218R | Italy |
| RP‐1436 | p.C628X | c.4297delC | Spain |
| Heterozygous | |||
| RP‐1293 | p.A1492V | ND | Spain |
| RP‐1426 | p.A2204P | ND | Spain |
ND, not determined.
*Patients in whom segregation analysis was performed.