Table 1 Systematic analysis of cases with LCAT deficiency

Asian

Japanese

19–32

CR: 13

R: 1

21

44

 F:7

M:11

Unk: 3

FLD:18

FED:3

8.1

No:2

Yes:15

Unk: 4

No:3

Yes:13

Unk: 5

No:12

Yes:4

Unk: 5

7.91

No:16

Unk:5

EX1:3

EX2:4

EX3:1

EX4:3

EX5:1EX6:6

c.367 C > T

c.490 C > T

c.821 C > G

c.101dupC

c.491_493dup´GCG

c.756 C > A

c.951G > A

g.501 C > T

c.278 C > T

T13M

1102G > A

c.862delG

c.221G > A

c.86 A > T

Insertion of G-g-C coding glycine at codon 141

c.607G > C

c.160G > A

c.951G > A

Korean

33

CR: 1

1

33

M:1

FLD:1

12

Yes:1

Yes:1

No:1

0.10

No:1

EX5:1

EX6:1

c.794_801de

c.633dupG

African

Morrocan

34

CR: 1

3

17,12,3

 F:2

M:1

FLD:3

6

Yes:1

No: 2

Yes:3

No:3

0.39

No:3

EX6:1

c.1010G > A

Caucasian

Australian

35

CR: 1

1

63

 F:1

FED:2

4

No:1

No:1

No:1

0.80

No:1

EX4:2

c.503 A > G

c.440 C > T

Austrian

36–37

CR: 2

4

42

M:2

Unk:2

FLD:3

U: 1

11.75

No:1

Yes:3

Yes:4

Normal:1

Yes:1

Unk:2

0.08

No:4

EX2:1

EX4:2

c.491G > A

c.283G > C

British

38–40

CR: 3

3

58

 F:1

M:2

FLD:2

FED:1

3

No:2

Yes:1

No:2

Yes:1

Normal:3

0.47

Present:2 (FLD, FED)

No:1

EX1:2

EX4:1

c.54ins30bp

c.169G > C

c.440 C > T

Canadian

41–42

CR: 2

7

38

 F:2

M:5

FLD:3

FED:4

6.14

No:4

Yes:3

No:4

Yes:3

No:5

Yes:2

4.30

No:7

EX4:1

EX6:3

c.1244 A > G

c.827T > A

c.485 C > T

c.1198insG

Caucasian

43–44

CR: 2

4

34

M: 4

FLD: 4

15

Yes:2

Unk:2

No:1

Yes:1

Unk:2

No:2

Unk:2

7.55

No:2

Unk:2

Ex1:2

EX5:1

EX6:3

c.991 C > T

c.1216T > G

c.703G > A

c.1034 C > T

c.154G > A

c.110 C > T

Danish

41

CR:1

1

47

M:1

FLD:1

7

Yes:1

Yes:1

Yes:1

1.30

No:1

EX3:1

EX5:1

c.544 C > T

c.349G > A

Dutch

45–49

CR: 3

R: 1

15

55

 F:7

M:8

FED:10

U:5

12

No:10

Unk:5

No:10

Unk:5

No:10

Unk:5

41.71

Present 3 (FED)

No:8

Unk:5

EX1:1

EX2:1

EX3:2

EX4:4

EX5:2

EX6:5

IVS4:1

c.403T > A

g.2327T > C

c.1244 A > G

c.101 C > A

c.1039 C > T

c.476G > A

c.736G > T

c.802 C > T

c.964 C > T

c.402G > T

c.1012 C > T

c.463 A > G

c.440 C > T

c.296G > C

Finnish

50–52

CR: 2

4

44

 F:1

M:3

FLD:4

8

Yes: 4

Yes: 2

No:2

No:4

No:4

EX1:1

EX6:2

c.760G > C

c.101insC

c.1267 C > T

French

53–57

41

CR: 3

9

43

 F:6

M:3

FLD:5

FED:2

5.91

No:4

Yes:4

Unk:1

No:5

Yes:2

Unk:2

No:6

Yes:2

Unk:1

5.57

No:8

Unk:1

EX4:2

EX5:4

EX6:1

c.585T > G

c.488_489delTG

c.544 C > T

c.698T > C

c.970-972del

c.511 C > T

French Canadian

58

CR: 1

2

25

M: 2

FLD: 2

6.5

Yes:2

Yes:1

No:1

No:2

4.00

No:2

EX1:1

c.102delG

Germany

59–62

CR: 4

5

55

 F: 1

M:3

FLD:2

FED: 3

4.33

Yes:2

No:3

Yes:2

No:3

Yes:2

No:3

0.51

Present: 2 (FED)

No: 2

Unk:1

EX2:1

EX4:3

EX5:1

EX6:1

c.1112 C > T

c.604dupA

c.440 C > T

c.160G > A

Greek

63

CR: 1

9

49

 F:1

M:8

FLD:9

13

Yes:9

Yes:9

Yes:9

No:7

EX6:1

c.802 C > T

Italy

64–71,

41

CR: 6

R: 1

27

33

 F: 2

M: 20

Unk:5

FLD: 18

FED:4

U:5

10

No: 4

Yes:16

Unk:7

No:7

Yes:13

Unk:7

No:7

Yes:11

Unk:9

8.96

No:19

Unk:8

Ex1:4

Ex2:2

Ex3:5

Ex4:3

Ex5:2

c.614G > A

c.892 A > G

c.230 A > G

c.1007 A > G

c.1021G > A

c.1115-1117del

c.1132G > A

c.1234G > A

c.31delG

c35C > T

c.209T > A

c.803G > A

c.893 C > T

c.997G > A

g.131–157

c.343T > C

c.1187T > G

c.511 C > T

c.141-145del

c.321 C > A

c.1034 C > T

c.892 A > G

c.321 C > A

c.301G > A

c.1289 C > T

c.726G > C

Norwegian

72,73

CR: 2

9

33

 F:6

M:3

FLD:9

11

Yes:9

Yes:8

No:1

Yes:3

No:6

0.4, 1.3

No:6

Unk:3

EX6:4

c.827 T > A

c.803 G > A

Polish

74

CR: 1

2

35

 F:1

M:1

FLD:2

19

Yes:2

Yes:2

Yes:1

No:1

No:2

EX6:1

c.997G > A

Portuguese

75

CR: 1

2

39

M:2

FLD:2

15

Yes:2

Yes:2

Yes:2

No:2

EX6:1

c.803G > T

Romanian

76

CR:1

1

33

 F:1

FLD:1

12

Yes:1

Yes:1

No:1

No:1

EX3:1

c.356G > A

Spanish

77–80

CR: 3

R: 1

12

51

 F:3

M:2

Unk:7

FLD:3

FED:1

U:8

10.4

No:2

Unk:10

No:3

Yes:2

Unk:7

No:3

Yes:2

Unk:7

19.36

No:5

Unk:7

EX2:1

EX3:1

EX4:1

EX5:2

IVS3:1

 g.2147 C > A

c.367 C > T

c.285-286del

c.512G > A

Swedish

81

CR: 1

3

68

 F:3

FED:3

7.3

No:3

No:3

No:3

2.40

Present:1 (FED)

No:2

EX1:1

c.101 C > T

Latin-American

Argentinian

82

CR: 1

1

63

 F:1

FED:1

4

No:1

No:1

No:1

2.40

Present:1 (FED)

Brazilian.

83,84

R: 1

 A:1

38

38

 F: 18

M: 20

FLD: 38

10

Yes: 25

No: 13

Unk:38

Yes: 7

Unk:31

Unk: 38

EX: 5

EX: 6

c.803 G > A

c.893 C > T

c.679 A > T

Chilean

85

CR: 1

1

36

 F:1

FLD:1

3

Yes:1

No:1

No:1

No:1

EX6:2

c.1210 A > G

c.997G > A

Colombian

86

CR: 1

1

33

M:1

FLD:1

4

Yes:1

Yes:1

Yes:1

No:1

Ecuadorian

87

CR: 1

1

60

 F:1

FED:1

Unk:1

No:1

No:1

No:1

Present:1 (FED)

Mexican Mestizo

88

CR: 1

6

42

 F:3

M:3

FLD:5

FED:1

8

No:1

Yes:5

No:1

Yes:5

Normal:1

Yes:5

3.33

Present:1 (FED)

No:5

EX1:4

EX4:1

c.110 C > T

c.490 C > T

c.101dupC

c.110 C > T

Trp8*

Middle East/south asian

Indian

89–91

CR: 3

6

38

 F:3

M:3

FLD:4

FED:2

13

Yes:4

No:2

Yes:4

No:2

No:2

Yes:4

28.00

No:6

Iranian

92

CR: 1

8

28

 F:5

M:3

FLD:8

28

No:8

No:8

Yes:8

No:8

EX2:1

c.301G > A

Lebanese

93

CR & R: 1

1

50

M:1

FLD:1

7

Yes:1

Yes:1

Yes:1

No:1

EX6:1

c.950T > G

Pakistani

94

CR: 1

1

33

 F:1

FLD:1

13

Yes:1

Yes:1

No:1

0.10

No:1

EX2:1

EX6:1

c.802 C > T

c.295T > C

Turkish

95

CR: 1

2

54

 F:1

M:1

FED:2

12

No:2

No:2

No:2

Present:2 (FED)

EX1:1

EX6:1

c.1052 A.G

c.86 A > G

Mixed

American

96–100

CR: 5

6

33

 F:2

M:3

Unk:1

FLD:2

FED:3

U:1

5.62

No:3

Yes:2

Unk:1

No:3

Yes:2

Unk:1

No:5

Unk:1

3.08

No:5

Unk:1

EX1:2

EX2:2

EX3:2

EX5:2

EX6:2

c.110 C > T

c.538T > A

c.254G > A

c.382G > A

c.1103G > T

c.837_838del

c.321 C > A

c.576delC

c.101 C > T