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

Yao et al. BMC Genomics 2007 8:319   doi:10.1186/1471-2164-8-319