Journal of Ophthalmology / 2017 / Article / Tab 1

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 numberCase numberGenderAge at examinationASCNVPXEConsanguinityGenotypeExonNucleotide changesAmino acid changesNotes

1 (JU#0376)1F70+++Homo19c.2542delGp.V848CfsX83
19c.2542delGp.V848CfsX83

2 (JU#0390)2F49++Hetero9c.1132C>Tp.Q378X

3 (JU#0446)3M46+++Compound hetero9c.1132C>Tp.Q378XFather of case 4
19c.2542delGp.V848CfsX83
4F16++Compound hetero9c.1132C>Tp.Q378XDaughter of case 3
10c.1256G>Ap.R419Q

4 (JU#0448)5M57++Compound hetero19c.2542delGp.V848CfsX83
29c.4069C>Tp.R1357W

5 (JU#0451)6F45+++Compound hetero9c.1132C>Tp.Q378XDescribed in Figure 1
29c.4069C>Tp.R1357W

6 (JU#0458)7F60+++Homo9c.1132C>Tp.Q378X
9c.1132C>Tp.Q378X

7 (JU#0481)8M44+Compound hetero10, 15c.1283A>G, c.1939C>Tp.N428S, p.H647Y
19c.2542delGp.V848CfsX83

8 (JU#0483)9M51+ND

9 (JU#0489)10F23++Hetero24c.3340C>Tp.R1114C

10 (JU#0554)11M71+++Compound hetero19c.2542delGp.V848CfsX83Father of case 12
24c.3374C>Tp.S1125F
12M36++Homo19c.2542delGp.V848CfsX83Son of case 11
19c.2542delGp.V848CfsX83

11 (JU#0602)13M73+++Compound hetero9c.1132C>Tp.Q378X
19c.2542delGp.V848CfsX83

12 (JU#0476)14F49+Compound hetero19c.2542delGp.V848CfsX83
29c.4069C>Tp.R1357W
13 (JU#MD196)15M77++NDCompound hetero19c.2542delGp.V848CfsX83
29c.4069C>Tp.R1357W

14 (JU#0627)16F81+NDHetero19c.2542delGp.V848CfsX83

15 (JU#0630)17M28++Compound hetero10c.1256G>Ap.R419Q
29c.4069C>Tp.R1357W

16 (JU#0639)18M57++Compound hetero19c.2542delGp.V848CfsX83
29c.4069C>Tp.R1357W

17 (JU#0651)19F51+++Compound hetero10c.1256G>Ap.R419Q
19c.2542delGp.V848CfsX83

18 (JU#0653)20M77+ND+Hetero10c.1256G>Ap.R419Q

F = female; M = male; AS = angioid streaks; CNV = choroidal neovascularization; PXE = pseudoxanthoma elasticum; ND = not determined; homo = homozygous; hetero = heterozygous.

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