A Marfan syndrome gene expression phenotype in cultured skin fibroblasts

BMC Genomics

Table 1 FBNI1 mutations -8, 30, 61-3]

	MFS Affected (known mutations)								Unaffected Controls (UC)
	Subject	Sex	Age	Mutation	Platform		Ref.	Subject		Sex	Age	Platform
1	FB 969	F	53	C628X	A	T	30	UC	1	F	74		T
2	FB 992	M	49	R861X	A	T	30	UC	2	F	34		T
3	GD 1051	F	45	PTC ex 24	A	T	DMUP	UC	3	F	34	A	T
4	FB 1234	F	34	N1157X	A	T	30	UC	4	F	34	A	T
5	FB 773	F	48	D1191X	A	T	30,61	UC	5	F	38	A	T
6	FB 857	M	16	R1192X		T	30	UC	6	F	35	A	T
7	FB 751	F	54	L1412X		T	30	UC	7	F	15	A	T
8	FB 997	F	48	R1523X		T	30	UC	8	F	11	A
9	FB 1286	F	33	R2057X	A	T	30	UC	9	F	5	A
10	FR 60	M	7	PTC ex 63	A	T	DMUP	UC	10	F	25	A	T
11	GD 021	M	17	PTC ex 63	A	T	DMUP	UC	11	F	49	A
12	GD 032	F	9	PTC ex 64	A		DMUP	UC	12	F	40	A
13	FB 836	F	31	C832Y	A	T	8,61	UC	13	M	72	A	T
14	FB 837	M	10	C832Y	A	T	8,61	UC	14	M	49	A	T
15	FB 783	F	33	C1117Y	A	T	61	UC	15	M	36	A	T
16	FB 984	M	22	C1171R		T	8	UC	16	M	43	A	T
17	FB 1069	F	4	C1326R		T	8	UC	17	M	35	A	T
18	FB 1040	F	29	C1361Y	A	T	8	UC	18	M	15	A	T
19	FB 882	F	27	C1402W		T	8	UC	19	M	71	A	T
20	FB 881	M	24	C1589F	A	T	61	UC	20	M	14	A	T
21	FB 1627	M	34	C2038Y	A	T	UFUP	UC	21	M	50	A
22	FB 829	M	21	C2053F		T	62
23	FB 1211	M	20	C2111R	A	T	UFUP
24	FB 1359	M	28	C2686F		T	62
25	FB 890	F	4mo	del ex 44-46	A	T	63
26	FB 774	F	40	del ex 42-43		T	63
27	FB 970	M	38	del ex 54		T	63
	Average Age 29								Average Age 37
	Additional MFS Affected (unknown mutations)								Additional Unaffected Controls (UC)
	Subject	Sex	Age		Platform			Subject		Sex	Age	Platform
28	MFS 1	M	37	AF		T		UC	22	M	25		T
29	MFS 3	M	25	AF		T		UC	23	F	56		T
30	MFS 4	F	45	AF		T		UC	24	M	39		T
31	MFS 5	F	68	AF		T		UC	25	F	38		T
32	MFS 6	M	48	AF		T		UC	26	F	59		T
33	MFS 7	F	29	AF		T		UC	27	M	30		T
34	MFS >8	M	44	AF		T		UC	28	M	32		T
35	MFS 9	F	55	AF		T		UC	29	M	55		T
36	MFS 10	F	17	AF		T		UC	30	M	43		T
37	MFS 11	F	42	AF		T		UC	31	F	58		T
38	MFS 12	M	32	AF		T		UC	32	F	52		T
39	MFS 13	F	47	AF		T		UC	33	F	23		T
40	MFS 14	M	17	AF		T		UC	34	F	55		T
41	MFS 17	M	53	AF		T		UC	35	M	38		T
42	MFS 18	M	38	AF		T		UC	366	F	36		T
43	MFS 20	M	46	AF		T		UC	37	F	41		T
	Average Age 40								Average Age 43
					Total:	17		42				Total:	19	32

ISSN: 1471-2164