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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
  1. In italics: mutations previously described.