Table 1.
Persons with Stargardt disease (STGD1) carrying two pathogenic ABCA4 alleles
| Patient_ID | Gender | Age at onset (years) | Segregation confirmed | Allele1 DNA | Allele1 protein | Allele 2 DNA | Allele 2 protein |
|---|---|---|---|---|---|---|---|
| A-I:2 | F | 38 | Yes | c.1822T>A | p.(Phe608Ile) | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*3; Asn1868Ile]b |
| B-I:2 | F | 10 | Yes | c.768G>T | p.(Leu257Valfs*17)c | c.859-506G>C | p.[Phe287Thrfs*32, =]b |
| C-I:2 | F | 48 | Yes | c.768G>T | p.(Leu257Valfs*17)c | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*3; Asn1868Ile]b |
| D-III:1 | M | 45 | Yes | c.4363T>C | p.(Cys1455Arg) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| E-II:1 | F | 7 | Yes | c.[818G>A; 5603A>T] | p.[Trp273*; Asn1868Ile] | c.4539+1100A>G | p.[Arg1514Valfs*31, Arg1514Glyfs*3, =]b |
| F-II:2 | F | 20 | Yes | c.1822T>A | p.(Phe608Ile) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| G-I:2 | F | 51 | Yes | c.1822T>A | p.(Phe608Ile) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| H-I:2 | F | 53 | Yes | c.[5461-10T>C; 5603A>T] | p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile] | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| I-II:3 | F | 44 | Yes | c.4577C>T | p.(Thr1526Met) | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*3; Asn1868Ile]b |
| J-II:3 | M | 61 | Yes | c.768G>T | p.(Leu257Valfs*17)c | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| K-II:1 | M | 62 | Yes | c.6155del | p.(Asn2052Thrfs*9) | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*; Asn1868Ile]b |
| L-II:1 | M | 61 | Yes | c.[5461-10T>C; 5603A>T] | p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile] | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*; Asn1868Ile]b |
| M-II:1 | M | 18 | Yes | c.4539+2001G>A | p.[=, Arg1514Leufs*36]d | c.[4253+43G>A; 5603A>T] | p.[=, Ile1377Hisfs*3; Asn1868Ile]b |
| N-II:3 | M | 31 | Yes | c.4773+1G>A | p.(?) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| O-I:1 | M | 49 | Yes | c.3113C>T | p.(Ala1038Val) | c.859-506G>C | p.[Phe287Thrfs*32, =]b |
| P-II:3 | F | 4 | Yes | c.5196+1137G>A | p.[Met1733Glufs*78, =]e | c.859-506G>C | p.[Phe287Thrfs*32, =]b |
| Q-II:1 | M | 69 | Yes | c.4539+1G>T | p.(?) | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*3; Asn1868Ile]b |
| R-II:1 | M | 52 | n.t. | c.4539+1G>T | p.(?) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |
| S-II:1 | F | 64 | n.t. | c.768G>T | p.(Leu257Valfs*17)c | c.[769-784C>T; 5603A>T] | p.[=, Leu257Aspfs*3; Asn1868Ile]b |
| T-II:1 | F | 35 | Yes | c.[2588G>C; 5603A>T] | p.[Gly863Ala, Gly863del; Asn1868Ile] | c.1937+435C>G | p.[=, Ser646Serfs*25]b |
| U-II:1 | M | 9 | n.t. | c.768G>T | p.(Leu257Valfs*17)c | c.1937+435C>G | p.[=, Ser646Serfs*25]b |
| V-II:1 | F | 15 | n.t. | c.[2588G>C; 5603A>T] | p.[Gly863Ala, Gly863del; Asn1868Ile] | c.4539+1100A>G | p.[Arg1514Valfs*31, Arg1514Glyfs*3, =]b |
| W-II:1 | n.a. | 11a | n.t. | c.[1622T>C; 3113C>T] | p.[Leu541Pro; Ala1038Val] | c.4539+1106C>T | p.[Arg1514Valfs*31, Arg1514Glyfs*3]b |
| X-II:1 | n.a. | 52a | n.t. | c.4469G>A | p.(Cys1490Tyr) | c.[4253+43G>A; 6006-609T>A] | p.[=, Ile1377Hisfs*3]b |