Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

BMC Medical Genetics

Table 1 Main clinical signs of the thirty-one Italian RSTS 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

ISSN: 1471-2350