Table 5.
Patients with STGD Who Have Two Identified Disease Alleles
|
Mutation |
|||
| Age at Onsetand Patient | Allele 1 | Allele 2 | Segregation in Familya |
| 5–9 years: | |||
| STGD17 | Q1412X | R2077W | Yes |
| STGD88 | G65E | G1961E | NA |
| STGD93 | G1961E | G1961E | Yes |
| STGD99 | L541P-A1038V | G1961E | Yes |
| STGD100 | L541P-A1038V | IVS40+5G→A | Yes |
| STGD108 | Y362X | IVS40+5G→A | Yes |
| STGD109 | L541P-A1038V | W855X | Yes |
| STGD139b | 5917delG | 5917delG | Yes |
| STGD167 | C1488Y | IVS40+5G→A | Yes |
| 10–14 years: | |||
| STGD21 | R681X | R1898H | NA |
| STGD37 | L541P-A1038V | L541P-A1038V | Yes |
| STGD47/164 | IVS13+1G→A | 2588G→C | Yes |
| STGD50 | 2588G→C | A1038V | NA |
| STGD70 | 2588G→C | IVS40+5G→A | NA |
| STGD82 | L541P-A1038V | S1063P | Yes |
| STGD87 | 2588G→C | Q1750X | Yes |
| STGD98 | R212C | T959I | Yes |
| STGD102 | R572Q-2588G→C | IVS35+2T→A | Yes |
| STGD107 | C764Y | 3528ins4 | Yes |
| STGD120 | L1430P | L1430P | NA |
| STGD121 | R1300X | IVS40+5G→A | Yes |
| STGD156 | R1108C | G1961E | NA |
| STGD159 | R1108C | Q1412X | Yes |
| STGD171 | L541P-A1038V | G1961E | NA |
| 15–19 years: | |||
| STGD34 | G768T | G1961E | Yes |
| STGD39 | L541P-A1038V | R1443H | NA |
| STGD40/163 | 2588G→C | E1885K | Yes |
| STGD45 | E1399K | G1977S | Yes |
| STGD59 | R1898H | G1975R | NA |
| STGD67 | P68L | S1689P | Yes |
| STGD75 | Q635K | IVS40+5G→A | Yes |
| STGD111 | 2292delT-S765R | G1961E | Yes |
| STGD114 | Y2203X | G1961E | Yes |
| STGD138 | IVS13+1GA | 2588G→C | Yes |
| 20–24 years: | |||
| STGD41 | R681X | G1961E | Yes |
| STGD63 | A60T | R1898H | NA |
| STGD86 | 296insA | G1961E | Yes |
| STGD91 | L541P-A1038V | A1038V | NA |
| STGD113 | L541P-A1038V | 2588G→C | Yes |
| STGD118b | IVS20+5G→A | G1961E | Yes |
| STGD119 | L541P-A1038V | G1961E | Yes |
| STGD122 | L541P-A1038V | G1961E | Yes |
| STGD135 | W663X | G1961E | NA |
| STGD147 | IVS36+1G→A | G1961E | Yes |
| STGD168 | L541P-A1038V | G1961E | NA |
| 25–29 years: | |||
| STGD62 | G607R | G1961E | NA |
| STGD71 | 296insA | A1038V | Yes |
| STGD78 | 2588G→C | Q1412X | Yes |
| STGD103 | 2588G→C | IVS20+5G→A | Yes |
| STGD116 | L541P-A1038V | G1961E | Yes |
| STGD139bb | G1961E | 5917delG | Yes |
| ⩾30 years: | |||
| STGD38 | E471K | G1961E | Yes |
| STGD68 | E1399K | G1961E | Yes |
| STGD69 | L541P-A1038V | 2588G→C | NA |
| STGD95 | F1440V | G1748R | Yes |
| STGD134 | C230S | G1961E | NA |
| STGD144 | 2588G→C | R1705L | NA |
| STGD148 | R1097C | Y2203X | NA |
| STGD170 | L541P-A1038V | 2588G→C | NA |
a
NA = not applicable.
b
139b and 139 are a mother-daughter pair.