Table 1 Review of mutation study of multiple sulfatase deficiency

1

1

c.1A > G

p. Met1Val

Missense

[7]

2

1

c.2 T > G

p. Met1Arg

Missense

[7]

3

1

c.58C > T

p.Leu20Phe

Missense

[7]

4

1

c.132_133insG

-

Frameshift

[7]

5

1

c.156delC

p.Cys52TrpfsTer57

Frameshift

[7]

6

1

c.191C > A

p.Ser64Ter

Nonsense

[3, 7]

7

1

c.243delC

p.Ile94SerfsTer15

Frameshift

[7]

8

2

c.276delC

p.Gly82GlufsTer27

Frameshift

[7]

9

2

c.305G > T

p.Gly102Val

Missense

[2]

10

2

c.389A > G

p.Glu130Gly

Missense

[8]

11

2

c.390A > G

p.Glu130Asn

Missense

[27]

12

2

c.392 T > G

p.Val131Gly

Missense

[8]

13

3

c.451A > G

p.Lys151Glu

Missense

[7, 9]

14

3

c.463 T > C

p.Ser155Pro

Missense

[1, 2, 7]

15

3

c.464G > A

p.Ser155Phe

Missense

[2]

16

3

c.519 + 4A > G

-

splice site

[7]

17

3

c.519 + 5_c.519 + 8del

-

Frameshift

[7]

18

Intron 3

IVS3 + 5-8del

-

Splice site

[7]

19

4

c.520_954dup

p.V174-P318dup

-

[7, 19]

20

4

c.529G > C

p.Ala177Pro

Missense

[2, 20, 25, 26]

21

4

c.536G > C

p.Trp179Ser

Missense

[2, 7]

22

4

c.539G > T

p.Trp180Leu

Missense

[2]

23

5

c.602 + 1G > A

-

Splice site

[7]

24

5

c.603-2delA

-

Frameshift

[7]

25

5

c.640G > A

p.Ala214Thr

Missense

[2]

26

5

c.653G > A

p.Cys218Tyr

Missense

[7]

27

5

c.661delG

p.Ala221GlnfsTer47

Frameshift

[7]

28

5

c.670C > T

p.Arg224Trp

Missense

[7]

29

5

c.671G > A

p.Arg224Gln

Missense

[7]

30

5

c.690-691insT

-

Frameshift

[7, 9]

31

5

c.700A > T

p.Ser234Arg

Missense

[7]

32

5

-

p.Ser236Ter

Nonsense

[7, 19]

33

6

c.725 + 1G > C

-

Splice site

[7]

34

6

c.731 T > C

p.Phe244Ser

Missense

[4]

35

6

c.739G > C

p.Gly247Arg

Missense

[1, 2, 4, 8, 19]

36

6

c.748delC

p.Leu250CysfsTER18

Frameshift

[7]

37

6

c.776A > G

p.Asn259Ser

Missense

[2, 7]

38

6

c.776A > T

p.Asn259Ile

Missense

[7, 19]

39

6

c.777C > A

p.Asn259Lys

Missense

[7]

40

6

c.785A > G

p.Gln262Arg

Missense

[7]

41

6

c.788G > T

p.Gly263Val

Missense

[1, 7, 19]

42

6

-

p.Ser265Ter

Nonsense

[7]

43

6

c.797C > T

p.Pro266Leu

Missense

[2, 21]

44

6

c.817G > A

p.Asp273Asn

Missense

[2]

45

6

c.818A > G

p.Asp273Gly

Missense

[3, 7]

46

6

c.818A > T

p.ASP273Val

Missense

[7]

47

6

c.836C > T

p.Ala279Val

Missense

[2, 19]

48

7

c.860A > T

p.Asn287Ile

Missense

Present study

49

7

c.890A > C

p.Asn297Thr

Missense

[2]

50

7

c.893 C > A

p.Ala298Glu

Missense

[7, 19]

51

Intron 7

IVS7 + 5G > T

-

Splice site

[7]

52

8

c.979C > T

p.Arg327Ter

Nonsense

[7]

53

8

c.1006 T > C

p.Cys336Arg

Missense

[7]

54

8 & 9

28 kb deletion

-

Frameshift

[4]

55

9

c.1018 T > C

p.Tyr340His

Missense

[19]

56

9

c.1029G > C

p.Arg343Ser

Missense

[19]

57

9

c.1033C > T

p.Arg345Cys

Missense

[1, 7]

58

9

c.1034G > T

p.Arg345His

Missense

[2]

59

9

c.1038 T > G

p.Cys346Trp

Missense

[7]

60

9

-

p.Arg348Pro

Missense

[7]

61

9

c.1043C > T

p.Ala348Val

Missense

[2, 20]

62

9

c.1045C > T

p.Arg349Trp

Missense

[1, 8]

63

9

c.1045C > G

p.Arg349Gly

Missense

[7]

64

9

c.1046G > A

p.Arg349Gln

Missense

[1]

65

9

c.1076C > A

p.Ser359Ter

Nonsense

[7]

66

9

c.1091G > A

p.Arg364His

Missense

[2]

67

9

c.1090C > T

p.Arg364Cys

Missense

[7]