From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
patient | age | sex | microcephaly | facial features | PMR/MR | large/bifid abducted thumb | hallux large/bifid | hallux valgus/varus | poor growth | malformations | CREBBP mutation |
---|---|---|---|---|---|---|---|---|---|---|---|
46* | 3 | F | - | + | + moderate | +/- | + | -/- | + | + | missense |
42 | 18 | F | + | + | + | +/+ | + | -/- | + | - | deletion |
32 | 4 | F | + | + | + | +/- | + | +/- | + | - | nonsense |
34 | 2 | M | + | + | + moderate | +/- | - | -/- | + | - | nonsense |
15 | 11 | M | + | + | + severe | +/- | + | -/- | + | + | missense |
2 | 10 | F | + | + | + moderate | +/- | + | -/- | + | - | insertion |
11 | 14 | M | + | + | + | +/+ | + | -/- | + | + | nonsense |
17 | 14 | F | + | + | + | +/- | + | -/- | + | + | deletion |
20 | 10 | F | + | + | + severe | +/- | + | -/+ | + | - | splice-site mutation |
21 | 7 | M | + | + | + | +/+ | + | +/+ | - | + | deletion |
22 | 30 | F | + | + | + | +/+ | + | -/- | + | - | deletion |
23 | 5 | F | - | + | + moderate | +/+ | + | -/- | - | + | missense |
24 | 7 | F | - | + | + | +/- | + | -/- | + | - | nonsense |
35 | 39 | M | - | + | + | +/- | + | -/- | + | - | nonsense |
40 | 26 | F | + | nd | + severe | +/- | + | nd | + | - | mosaic del 5' |
66 | 6 | M | - | + | + severe | +/- | + | - | - | + | mosaic del 5' |
41 | 25 | F | + | + | + | +/+ | + | -/- | + | - | del mat |
38 | 5 | M | - | + | + severe | -/- | + | -/- | - | - | mosaic del 3' |
30 | 26 | F | + | + | + | +/+ | + | -/- | + | - | del mat |
36 | 11 | F | - | + | + borderline | +/- | - | -/- | - | - | neg |
39 | 13 | M | + | + | + | -/- | + | -/- | + | + | neg |
43 | 11 | M | + | + | + servere | nd | nd | nd | - | nd | neg |
44 | 21 | M | nd | + | + | +/+ | + | -/- | - | - | neg |
1 | 9 | M | + | + | + moderate | +/- | - | -/- | - | - | neg |
12 | 17 | M | + | +/- | + moderate | +/- | + | -/- | + | - | neg |
14 | 6 | F | - | + | + moderate | +/+ | + | -/- | - | + | neg |
16 | 8 | M | + | + | + moderate | +/+ | + | -/+ | + | + | neg |
25 | 4 | M | - | + | + mild | +/- | + | -/- | - | + | neg |
45 | 28 | F | nd | + | + moderate | nd | nd | nd | + | nd | neg |
28 | 42 | F | + | + | + | +/+ | + | -/- | - | - | neg |
29 | 37 | M | + | + | + | +/- | + | -/- | - | - | neg |