Table 1 Clinical characteristics and mutations of patients with HLCS deficiency
Patient no | Sex | NBS | Onset age | Current health condition | Mutation 1 | Mutation 2 |
|---|---|---|---|---|---|---|
1 | F | No | 1 m | Healthy | c.1994G > C, p.R665P | c.1994G > C, p.R665P |
2 | M | No | 3 m | Healthy | c.1088 T > A, p.V363D | c.1088 T > A, p.V363D |
3 | M | No | 19 m | Healthy | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
4 | F | No | 4 m | Healthy | c.126G > T, p.E42D | c.1088 T > A, p.V363D |
5 | F | No | 5 m | Healthy | c.126G > T, p.E42D | c.1088 T > A, p.V363D |
6 | M | No | 7 m | Healthy | c.1088 T > A, p.V363D | c.1522C > T, p.R508W |
7 | M | No | 8 m | Healthy | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
8 | M | No | 7 m | Healthy | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
9 | M | No | 3 m | Deceased | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
10 | F | No | 6 m | Healthy | c.1522C > T, p.R508W | c.1088 T > A, p.V363D |
11 | M | No | 5 m | Lost to follow-up | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
12 | M | No | 2 m | Deceased | c.1544G > A, p.S515N | c.1481G > T, p.G494V |
13 | M | No | 3 m | Healthy | c.1433C > T, p.T478M | c.1825C > T, p.P609S |
14 | F | No | 2 m | Healthy | c.663_664delCA, splicing | c.1648G > A, p.V550M |
15 | F | No | 2 m | Healthy | c.1544G > A, p.S515N | c.1810G > A, p.V604M |
16 | F | Yes | - | Healthy | c.1397G > T, p.G466V | c.1522C > T, p.R508W |
17 | M | No | 7d | Healthy | c.780delG,p.G261Vfs*20 | c.1522C > T, p.R508W |
18 | M | No | 5 m | Lost to follow-up | c.1522C > T, p.R508W | c.1522C > T,p.R508W |
19 | M | No | 4 m | Healthy | c.1810G > A, p.V604M | c.1522C > T, p.R508W |
20 | M | Yes | - | Healthy | c.1544G > A, p.S515N | c.1522C > T, p.R508W |
21 | F | Yes | 19d | Healthy | c.780delG,p.G261Vfs*20 | c.1522C > T, p.R508W |
22 | F | Yes | - | Healthy | c.223C > T, p.Q75X | c.1544G > A, p.S515N |
23 | M | Yes | - | Healthy | c.2057 T > G, p.I686S | c.1985G > A, p.S662N |
24 | M | Yes | 24d | Healthy | c.1825C > T, p.P609S | c.780delG,p.G261Vfs*20 |
25 | F | No | 3 m | Healthy | c.1544G > A, p.S515N | c.2126C > T, p.P709L |
26 | M | No | 5 m | Deceased | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
27 | M | No | 7 m | Healthy | c.1522C > T, p.R508W | c.1522C > T, p.R508W |
28 | F | No | 3 m | Healthy | c.1522C > T, p.R508W | c.1088 T > A, p.V363D |