Table 1 Patient characteristics of 19 patients with IOPD
From: Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Patient no. (n = 19) | Sex | GA, week, BBW (kg) | Age at referral (day) | Age at first ERT (day) | End of study age (year) | GAA mutation |
|---|---|---|---|---|---|---|
1 | F | 37, 3.2 | 18 | 18 | 9.5 | c.1411_1414del, (E471fsX5), heterozygous c.872T → C, (p.L291P) heterozygous |
2 | M | 38, 3.5 | 15 | 15 | 8.4 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
3 | M | 39, 3.3 | 9 | 9 | 8.4 | c.1935 C → A, (p.D645E), heterozygous c.2303 C → T, (p.P768L), heterozygous |
4 | M | 38, 3.1 | 12 | 12 | 8 | c.1396 G → T, (p.V466F), heterozygous c.1935 C → A, (pD645E), heterozygous |
5 | F | 39, 3.0 | 9 | 9 | 7.5 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
6 | F | 39, 3.1 | 8 | 23 | 6.5 | c.2238 G → C, (p.W746C), heterozygous c.2237 G → A, (p.W746X), heterozygous c.1726 G → A, (p.G576S), heterozygous |
7 | F | 34, 2.2 | 12 | 12 | 6.5 | c.1935 C → A, (pD645E), heterozygous IVS7 + 2T → C, heterozygous c.1726 G → A, (p.G576S), heterozygous |
8 | M | 39, 3.7 | 7 | 7 | 6.4 | IVS7 + 2T → C, heterozygous c.1935 C → A, (p.D645E), heterozygous c.1726 G → A, (p.G576S), heterozygous |
9 | F | 39, 2.9 | 13 | 13 | 6 | c.1082 C → T, (p.P361L), heterozygous c.1935 C → A, (p.D645E), heterozygous c.1726 G → A, (p.G576S), heterozygous |
10 | F | 39, 2.9 | 10 | 10 | 5.7 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
11 | F | 41, 2.6 | 6 | 6 | 5.6 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
12 | F | 36, 3.3 | 8 | 8 | 4.8 | c.1411_1414del, (E471fsX5), heterozygous c.1935 C → A, (pD645E), heterozygous c.1726 G → A, (p.G576S), heterozygous |
13 | M | 39, 2.5 | 13 | 13 | 4.6 | c.1726 G → A, (p.G576S), heterozygous c.1935C → A, (pD645E), heterozygous c.2274insC, (p.G759fs), heterozygous |
14 | F | 39, 3.1 | 7 | 8 | 2.4 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
15 | F | 38, 3.5 | 7 | 9 | 3.1 | c.1411_1414del, (E471fsX5), heterozygous c.752C > T;c.761 C > T,p.S251L; S254L c.1843 G > A,p.G615R |
16 | F | 37, 3.1 | 9 | 10 | 3 | c.1636 + 10 C > T c.2024_2026del,p.N675del c.241 C > T,p.Q81* |
17 | F | 38, 3.6 | 14 | 14 | 2.8 | c.2228 A > C,p.Q743P c.1726 G → A, (p.G576S), heterozygous c.1935C → A, (pD645E), heterozygous |
18 | M | 39, 3.1 | 6 | 6 | 2.5 | c.2238 G → C, (p.W746C), heterozygous c.1726 G → A, (p.G576S), heterozygous c.1935C → A, (pD645E), heterozygous |
19 | M | 38, 3.8 | 7 | 8 | 2 | c.1935 C → A, (p.D645E), homozygous c.1726 G → A, (p.G576S), homozygous |
Mean (SD) | Â | Â | 10.0 (3.42) | 11.05 (4.31) | 5.46 (2.33) | Â |