Research Article
ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
Table 1
Clinical profiles and ABCC6 variants of the patients with angioid streaks.
| | Family number | Case number | Gender | Age at examination | AS | CNV | PXE | Consanguinity | Genotype | Exon | Nucleotide changes | Amino acid changes | Notes |
| | 1 (JU#0376) | 1 | F | 70 | + | + | + | − | Homo | 19 | c.2542delG | p.V848CfsX83 | | | 19 | c.2542delG | p.V848CfsX83 |
| | 2 (JU#0390) | 2 | F | 49 | + | − | + | − | Hetero | 9 | c.1132C>T | p.Q378X | |
| | 3 (JU#0446) | 3 | M | 46 | + | + | + | − | Compound hetero | 9 | c.1132C>T | p.Q378X | Father of case 4 | | 19 | c.2542delG | p.V848CfsX83 | | 4 | F | 16 | + | − | + | − | Compound hetero | 9 | c.1132C>T | p.Q378X | Daughter of case 3 | | 10 | c.1256G>A | p.R419Q |
| | 4 (JU#0448) | 5 | M | 57 | + | − | + | − | Compound hetero | 19 | c.2542delG | p.V848CfsX83 | | | 29 | c.4069C>T | p.R1357W |
| | 5 (JU#0451) | 6 | F | 45 | + | + | + | − | Compound hetero | 9 | c.1132C>T | p.Q378X | Described in Figure 1 | | 29 | c.4069C>T | p.R1357W |
| | 6 (JU#0458) | 7 | F | 60 | + | + | + | − | Homo | 9 | c.1132C>T | p.Q378X | | | 9 | c.1132C>T | p.Q378X |
| | 7 (JU#0481) | 8 | M | 44 | + | − | − | − | Compound hetero | 10, 15 | c.1283A>G, c.1939C>T | p.N428S, p.H647Y | | | 19 | c.2542delG | p.V848CfsX83 |
| | 8 (JU#0483) | 9 | M | 51 | + | − | ND | − | − | − | − | − | |
| | 9 (JU#0489) | 10 | F | 23 | + | − | + | − | Hetero | 24 | c.3340C>T | p.R1114C | |
| | 10 (JU#0554) | 11 | M | 71 | + | + | + | − | Compound hetero | 19 | c.2542delG | p.V848CfsX83 | Father of case 12 | | 24 | c.3374C>T | p.S1125F | | 12 | M | 36 | + | − | + | − | Homo | 19 | c.2542delG | p.V848CfsX83 | Son of case 11 | | 19 | c.2542delG | p.V848CfsX83 |
| | 11 (JU#0602) | 13 | M | 73 | + | + | + | − | Compound hetero | 9 | c.1132C>T | p.Q378X | | | 19 | c.2542delG | p.V848CfsX83 |
| | 12 (JU#0476) | 14 | F | 49 | + | − | − | − | Compound hetero | 19 | c.2542delG | p.V848CfsX83 | | | 29 | c.4069C>T | p.R1357W | | 13 (JU#MD196) | 15 | M | 77 | + | + | ND | − | Compound hetero | 19 | c.2542delG | p.V848CfsX83 | | | 29 | c.4069C>T | p.R1357W |
| | 14 (JU#0627) | 16 | F | 81 | + | − | ND | − | Hetero | 19 | c.2542delG | p.V848CfsX83 | |
| | 15 (JU#0630) | 17 | M | 28 | + | − | + | − | Compound hetero | 10 | c.1256G>A | p.R419Q | | | 29 | c.4069C>T | p.R1357W |
| | 16 (JU#0639) | 18 | M | 57 | + | − | + | − | Compound hetero | 19 | c.2542delG | p.V848CfsX83 | | | 29 | c.4069C>T | p.R1357W |
| | 17 (JU#0651) | 19 | F | 51 | + | + | + | − | Compound hetero | 10 | c.1256G>A | p.R419Q | | | 19 | c.2542delG | p.V848CfsX83 |
| | 18 (JU#0653) | 20 | M | 77 | + | ND | + | − | Hetero | 10 | c.1256G>A | p.R419Q | |
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F = female; M = male; AS = angioid streaks; CNV = choroidal neovascularization; PXE = pseudoxanthoma elasticum; ND = not determined; homo = homozygous; hetero = heterozygous.
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