Table 2. Summary of USH2A deletions identified in our cohort of patients.
Family | Patient | Allele 1 | Allele 2 | Daignosis | References |
---|---|---|---|---|---|
FRP-429§ |
RP-1696/RP-1697 |
del ex 9–14* |
del ex 9–14* |
USH2 |
*Bernal et al. (2005) [37] |
FRP-404 |
RP-1622 |
del ex 14 |
del ex 14 |
USH2 |
|
FRP-298 |
RP-838 |
del ex 5–13 |
del ex 5–13 |
USH2 |
|
FRP-323 |
RP-1397 |
c.8167C>T/p.R2723X |
del ex 1–4 |
USH2 |
|
FRP-413 |
RP-1637/RP-1638 |
c.5540dupA/p.N1848EfsX20* |
del ex 5–9 |
USH2 |
*García-García et al. (2011) [30] |
FRP-423# | RP-1678/RP-1679 | c.2276G>T/p.C759F* | del ex 22–29 | ARRP | *Avila-Fernandez et al. (2010) [35] |