Table 2 Baseline clinical, echocardiographic and mutational studies of the 48 patients with MPS II
No | Gender | MPS type | Age (years) | MS | MR | AS | AR | MVP | Thick IVS | ASH | Left ventricular remodeling pattern | IDS gene mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | II (M) | 0.1 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.817C>T; p.R273W |
2 | M | II (S) | 0.1 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.311 A>T; p.D104V |
3 | M | II (S) | 0.1 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.1007-1666_c.1180 + 2113 delinsTT (including exon 8 del) |
4 | M | II (M) | 0.1 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.1025A>G; p.H342R |
5 | M | II (S) | 0.2 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.1400C>T; p.P467L |
6 | M | II (M) | 0.4 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.254C>T; p.A85V |
7 | M | II (S) | 2.1 | 0 | 1.5 | 0 | 0 | + | − | − | Eccentric hypertrophy | exon 2 del121-123 |
8 | M | II (S) | 2.2 | 0 | 1 | 0 | 0 | + | − | + | Eccentric hypertrophy | c.240+1G>C |
9 | M | II (S) | 2.2 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | IDS inversion |
10 | M | II (S) | 3.2 | 0 | 1 | 1 | 0 | + | − | − | Normal geometry | IDS intron 7 to IDS2 intron 1, 254,436 to 294,456 (recombination) |
11 | M | II (M) | 3.3 | 0 | 2 | 0 | 0 | + | − | − | Concentric hypertrophy | NA |
12 | M | II (M) | 3.4 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.1025A>G; p.H342R |
13 | M | II (M) | 3.8 | 1 | 1 | 1 | 0 | − | + | − | Normal geometry | c.1122C>T; p.Gly374= |
14 | M | II (M) | 4.5 | 0 | 2 | 0 | 1.5 | − | + | − | Normal geometry | c.683C>T; p.P228L |
15 | M | II (S) | 4.5 | 0 | 0 | 0 | 0 | + | + | − | Normal geometry | Exon 4–7 deletion |
16 | M | II (M) | 4.7 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | NA |
17 | M | II (M) | 4.9 | 0 | 1 | 0 | 0 | − | + | − | Concentric remodeling | c.507+1G>A |
18 | M | II (S) | 5.0 | 0 | 1 | 0 | 0 | + | + | − | Normal geometry | c.262C>T; p.R88C |
19 | M | II (S) | 5.1 | 1 | 0 | 1 | 0 | − | + | − | Concentric remodeling | NA |
20 | M | II (M) | 5.6 | 0 | 1 | 0 | 0 | − | − | + | Normal geometry | c.253G>A; p.A85T |
21 | M | II (M) | 5.6 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | IVS7+5G>C (22 bp ins) |
22 | M | II (S) | 6.4 | 1 | 1 | 0 | 0 | − | + | + | Normal geometry | NA |
23 | M | II (M) | 6.8 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.817C>T; p.R273W |
24 | M | II (M) | 6.9 | 0 | 0 | 0 | 0 | + | + | − | Normal geometry | c.1403G>A; p.R468Q |
25 | M | II (M) | 7.0 | 0 | 0 | 0 | 1 | − | − | − | Eccentric hypertrophy | IDS inversion |
26 | M | II (S) | 7.1 | 0 | 0 | 0 | 0 | − | − | − | Normal geometry | c.1402C>T; p.R468W |
27 | M | II (S) | 7.8 | 0 | 1 | 1 | 2 | − | − | − | Normal geometry | c.454A>C; p.S152R |
28 | M | II (S) | 8.0 | 0 | 0 | 0 | 1.5 | − | + | − | Normal geometry | c.231_236delCTTTGC |
29 | M | II (S) | 8.3 | 0 | 1 | 0 | 1.5 | + | − | − | Eccentric hypertrophy | c.1466G>A; p.G489D |
30 | M | II (S) | 9.9 | 1 | 0 | 1 | 0 | − | + | − | Normal geometry | c.262C>T; p.R88C |
31 | M | II (S) | 10.6 | 0 | 1 | 0 | 1 | − | − | − | Normal geometry | c.1402C>T; p.R468W |
32 | M | II (M) | 10.6 | 1 | 0 | 1 | 0 | − | + | − | Normal geometry | c.801G>T; p.W267C |
33 | M | II (M) | 10.9 | 0 | 1 | 0 | 2 | − | + | − | Eccentric hypertrophy | c.1006+5G>C |
34 | M | II (S) | 11.0 | 1 | 1 | 0 | 0 | + | − | − | Normal geometry | c.253G>A; p.A85T |
35 | M | II (S) | 11.4 | 1 | 0 | 0 | 0.5 | − | + | − | Normal geometry | NA |
36 | M | II (S) | 11.6 | 1 | 1 | 1 | 1.5 | + | + | + | Normal geometry | c.413A>G; p.H138R |
37 | M | II (S) | 12.1 | 1 | 1 | 0 | 0 | − | − | − | Normal geometry | c.1402C>T; p.R468W |
38 | M | II (S) | 12.1 | 0 | 0 | 0 | 0.5 | − | − | − | Normal geometry | c.801G>T; p.W267C |
39 | M | II (S) | 12.2 | 0 | 1 | 0 | 1 | − | + | − | Concentric remodeling | c.1454T>G; p.I485R |
40 | M | II (S) | 13.2 | 1 | 1 | 1 | 0 | − | + | − | Eccentric hypertrophy | c.1402C>T; p.R468W |
41 | M | II (M) | 14.8 | 0 | 1 | 0 | 1.5 | + | + | − | Eccentric hypertrophy | c.1006+5G>C |
42 | M | II (M) | 16.0 | 2 | 2.5 | 2 | 0 | − | − | − | Eccentric hypertrophy | c.697A>G; p.R233G |
43 | M | II (M) | 17.0 | 0 | 1 | 0 | 1 | + | − | − | Concentric hypertrophy | c.1122C>T; p.Gly374= |
44 | M | II (M) | 18.1 | 0 | 1.5 | 0 | 1 | + | + | − | Eccentric hypertrophy | c.1006+5G>C |
45 | M | II (M) | 19.1 | 1 | 1 | 1 | 0 | − | + | − | Eccentric hypertrophy | NA |
46 | M | II (M) | 21.2 | 1 | 0 | 1 | 1 | − | + | − | Concentric remodeling | c.1122C>T; p.Gly374= |
47 | M | II (M) | 23.5 | 2 | 1 | 2 | 1 | − | + | − | Concentric hypertrophy | c.801G>T; p.W267C |
48 | M | II (M) | 27.9 | 1 | 1 | 1 | 1 | − | + | − | Normal geometry | del exon 8 |