Table 3 Characteristics of patients with surfactant disorders
Patient number | Sex | Age at diagnosis (years) | Follow up (years) | Surfactant disorder | Mutation |
|---|---|---|---|---|---|
1* | M | 0.3 | 2.9 | SP-C | c.424delC |
2* | M | 0.4 | 3.6 | SP-C | c.566 G > A (C189Y) |
3* | F | 0.3 | 3.8 | SP-C | c.566 G > A (C189Y) |
4* | M | 0.2 | 1.4 | SP-C | c.325-1 G > A |
5* | M | 2.4 | 0.4 | SP-C | c.218 T > C (I73T) |
6* | F | 5.8 | 0 | SP-C | c.218 T > C (I73T) |
7* | F | 1.6 | 2.4 | SP-C | c.218 T > C (I73T) |
8* | F | 0.4 | 1.4 | SP-C | c.218 T > C (I73T) |
9* | F | 1.2 | 1.2 | SP-C | c.218 T > C (I73T) |
10* | M | 0.8 | 2.5 | SP-C | c.218 T > C (I73T) |
11* | F | 0.3 | 4.2 | SP-C | c.218 T > C (I73T) |
12* | F | 0 | 1.8 | SP-C | c.218 T > C (I73T) |
13* | M | 1.6 | md | SP-C | c.218 T > C (I73T) |
14* | M | 0.7 | 4.2 | SP-C | c.218 T > C (I73T) |
15* | M | 2.2 | 3.1 | SP-C | c.218 T > C (I73T) |
16* | F | 0.2 | 6.2 | SP-C | c.218 T > C (I73T) |
17* | F | 2.7 | 11.7 | SP-C | c.218 T > C (I73T) |
18* | F | 0.5 | 12.4 | SP-C | c.218 T > C (I73T) |
19* | M | 0.4 | 6.6 | SP-C | c.218 T > C (I73T) |
20* | M | 0.3 | 2.4 | SP-C | c.581 T > C (L194P) |
21* | M | 8.5 | 0 | SP-C | c.563 T > C (L188P) |
22* | F | 0.4 | 17.2 | SP-C | c.116 T > C (V39A) |
23 | M | 0 | 0.1 | SP-B | g.1549 C > GAA (121ins2) −/− |
24 | M | 0 | 0.1 | SP-B | g.1549 C > GAA (121ins2) −/− |
25 | M | 0.2 | 0 | SP-B | g.1549 C > GAA (121ins2) −/− |
26 | F | 0 | 0.2 | SP-B | g.1549 C > GAA (121ins2) −/− |
27 | M | 0.1 | 0 | SP-B | c.496delG −/− |
28 | M | 0 | 0.1 | SP-B | Y253X −/− |
29 | F | 0 | 0.2 | SP-B | 672 + 2del5 −/− |
30* | F | 0 | 9.2 | ABCA3 | c.3518 C > G (T1173R) −/− |
31* | M | 0.3 | 10.9 | ABCA3 | c.757 G > C (D253H) −/− |
32* | F | 2.3 | MD | ABCA3 | c.3518 C > G (T1173R) −/− |
33* | M | 0.3 | 3.4 | ABCA3 | P585 −/− |
34* | F | 12.3 | 3 | ABCA3 | c.3518 C > G (T1173R) −/− |
35* | F | 0.1 | 4.8 | TTF1 | c.786_787del2 (p.L263fs) |
36* | F | 0.1 | 1.5 | TTF1 | c.493 C > T(R165W) |
Sex ratio 1 | Median 0.3 | Median 2.4 |