Table 2 Fourteen causative CREBBP mutations detected by direct sequencing.
From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
PATIENT | MUTATION | TYPE |
|---|---|---|
23 | Ex 1: c.40 A>G – p.Arg14Gly | missense |
24 | Ex 4: c.1108C>T – p.Arg370X (Bartsch et al.2002) | nonsense |
35 | Ex 5: c.1270C>T – p.Arg424X (Bartsch et al.2005) | nonsense |
11 | Ex 10: c.1984C>T – p.Gln662X | nonsense |
2 | Ex 17: c.3351_3352dupCC – p.Gln1118ProfsX13 | insertion |
32 | Ex 18: c.3517C>T – p.Arg1173X | nonsense |
17 | Ex 20: c.3715_3716delAA – p.Lys1239ValfsX14 | deletion |
34 | Ex 27: c.4435G>T – p.Gly1479X | nonsense |
15 | Ex 27: c.4445A>G – p.Tyr1482Cys | missense |
46 | Ex 28: c.4627G>T – p.Asp1543Tyr | missense |
20 | Ex 28: c.4728+1G>A | splice-site mutation |
22 | Ex 30: c.4963delC – p.Leu1655CysfsX89 | deletion |
42 | Ex 31: c.6043delA – p.Ser2015AlafsX25 | deletion |
21 | Ex 31: c.6065_6071delAGCAGGC – p.Gln2022AgfsX16 | deletion |