Table 2.

Fourteen causative CREBBP mutations detected by direct sequencing.

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

In italics: mutations previously described.