Table 2.
Genetic Profile of USH2A Patients.
| ID | Gender | Age | USH2A mutation | Protein Change | Segregation | |
|---|---|---|---|---|---|---|
| Syndromic | P1 | M | 25 | c.1724G > A | p.(Cys575Tyr) | — |
| c.2299delG | p.(Glu767Serfs*21) | |||||
| P2 | M | 17 | c.3713C > G | p.(Thr1238Arg) | — | |
| c.9459C > A | p.(Cys3153*) | |||||
| P3 | M | 45 | c.8442_8443insT | p.(Thr2815Tyrfs*20) | — | |
| c.1000C > T | p.(Arg334Trp) | |||||
| P4 | F | 24 | c.11918delC | p.(Ala3973Valfs*11) | In trans | |
| c.10712C > T | p.(Thr3571Met) | |||||
| P5 | F | 28 | c.2299delG | p.(Glu767Serfs*21) | Homozygous | |
| c.2299delG | p.(Glu767Serfs*21) | |||||
| P6 | F | 24 | c.13112_13115delAAAT | p.(Gln4371Argfs*19) | In trans | |
| c.13943delG | p.(Gly4648Aspfs*30) | |||||
| P7 | M | 59 | c10712C > T | p.(Thr3571Met) | Homo | |
| c10712C > T | p.(Thr3571Met) | |||||
| P8 | F | 36 | c10712C > T | p.(Thr3571Met) | In trans | |
| c.4711G > C | p.(Ala1571Pro) | |||||
| P9 | M | 57 | c.2299delG | p.(Glu767Serfs*21) | — | |
| c.12574C > T | p.(Arg4192Cys) | |||||
| P10 | M | 19 | c.15520-22_15524del27 | p.(?) | — | |
| c.6049 + 2T > G | p.(?) | |||||
| Nonsyndromic | P11 | F | 30 | c.9676C > T | p.(Arg3226*) | — |
| c.1478A > G | p.(Tyr493Cys) | |||||
| P12 | M | 16 | c.4251 + 1G > Aǂ | p.(?) | ǂIn trans | |
| c.13223T > C | p.(Val4408Ala) | |||||
| c.13231C > G | p.(Leu4411Val) | |||||
| P13 | M | 68 | c.2276G > T | p.(Cys759Phe) | Homozygous | |
| c.2276G > T | p.(Cys759Phe) | |||||
| P14 | F | 31 | c.10073 G > A | p.(Cys3358Tyr) | — | |
| c.10759C > T | p.(Gln3587*) | |||||
| P15 | F | 25 | c.13010C > T | p.(Thr4337Met) | — | |
| c.9740-1G > T | p.(?) | |||||
| P16 | M | 55 | c.10073G > A | p.(Cys3358Tyr) | Homozygous | |
| c.10073G > A | p.(Cys3358Tyr) | |||||
| P17 | F | 57 | c.14287G > A | p.(Tyr493Cys) | In trans | |
| c.3476C > T | p.(Pro1159Leu) | |||||
| P18 | F | 52 | c.895delC | p.(Gln299Asnfs*37) | — | |
| c.5848A > G | p.(Thr1950Ala) | |||||
| P19 | M | 50 | c.13491_13499dupTACTCTCAC | p.(Thr4498_Thr4500dup) | Homozygous | |
| c.13491_13499dupTACTCTCAC | p.(Thr4498_Thr4500dup) | |||||
| P20 | M | 55 | c.12575G > A | p.(Arg4192His) | In trans | |
| c.8682-9A > G | p.(?) |