Table 1 Alpha galactosidase gene (GLA) mutations and demographic data of Fabry disease patients

Intron 2; c.369 + 1G > T

2

21 M, 54 F

Exon 3; c.427G > A (ALA143Thr)

4

31 M, 47 M, 58 F, 59 F

Exon 3; (p.Ser126Gly)

1

49 F

Exon 4; c.610T > Cp. (W204R)

1

56 M

Exon 5; c.717-718 del AA or c.718-719 del AA fs 248X

2

48 F, 53 F

Exon 6; N320I (p.Asn320Ile)

1

31 M

Exon 6 Stop Codon; c.901C > T

1

44 F

Exon 7; c.1019G > A (p.W340*)

3

11 F, 13 M, 42 F

c.334C > T; p.R112C

2

25 M, 54 F

c.376A > Gp. (Ser126Gly)

1

34 M

c.427G > A

1

65 M

c.547 + 1G- > A

1

36 F

c.559A > G (p.Met187Val)

4

28 F, 35 F, 39 F, 60 M

c.717A > G p. (Ile239Met)

1

59 M

c.861G > A (p.Trp287*)

1

67 F

c.937G > T; p.D313Y

1

29 F

c.937G > T (p.Asp313Tyr)

3

24 F, 44 F, 64 M

c.1088G > A (p.Arg363His)

1

44 F

c.1087C > T (p.Arg363Cys)

2

40 F, 60 M

p.Asp313Tyr; D313Y

1

32 F

p.G361X

1

57 F

A215S

2

52 F, 72 F

D313Y

1

54 F