Table 1 Mutational analysis of MPS III patients

1

M

2004

III-A

p. [L343Pfsx158]+ p. [D235N]

Weber 1997 [[21]]

(c. [1027dupC]+c. [703G>A])

Bunge 1997 [[22]]

8

F

1998

III-A

p. [A354P]+ p. [L343Pfsx158]

Monfort 1998, [[23]]

(c. [1027 dupC] + (c. [1063G>C])

Weber 1997 [[21]]

Bunge 1997 [[22]]

9

M

1996

III-A

p. [R74C +?] (c. [220C>T +?])

Weber 1997 [[21]]

14

F

1996

III-A

p. [R74C + R47C] (c. [220C>T + 220C>T ])

Weber 1997 [[21]]

15

M

2005

III-A

p. [R433Q]+ p. [R433Q] (c. [1298G>A]+

Chabas 2001 [[24]]

c. [1298G>A ])

17

M

1997

III-A

p. [V361fsX52)+ V361fsX52] ( c. [1079 del C + 1079delC])

Monfort 1998 [[23]]

19

M

2001

III-A

p. [V361fsX52 ]+p. [ R433Q] (c. [1079 del C] +c. [1298G>A])

Monfort 1998 [[23]]

21

F

2000

III-A

p. [S66W +?] (c. [197C>G +?])

Montfort 2004 [[25]]

only Father mutation found

24 *

M

1976

III-A

p. [V361fsX52]+ p. [V361fsX52] (c. [1079 del C] + c. [1079delC])

Monfort 1998 [[23]]

25*

M

1986

III -A

p. [V361fsX52]+ p. [V361fsX52] ( c. [1079 del C] + c. [1079delC])

Monfort 1998 [[23]]

26

F

1990

III-A

p. [S66W ]+ p. [R74H]

Montfort 2004 [[25]]

(c. [197C>G] + c. [220C>T])

Weber1997 [[21]]

27 **

M

1981

III-A

p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C])

Monfort 1998 [[23]]

Montfort 2004 [[25]]

28**

M

1984

III-A

p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C])

Monfort 1998 [[23]]

Montfort 2004 [[25]]

36

F

2007

III-A

p. [R74C]+ p. [Q85R]

Weber1997 [[21]]

(c. [220C>T] +c. [254A>G])

Montfort 1998 [[23]]

37

F

2009

III-A

p. [V361SfsX52] + p. [V361fsX52] (c. [1079 del C] +

Montfort 1998 [[23]]

c. [1079 del] )

39

M

2005

III-A

p. [V361fsX52)+ p. [V361fsX52] c. [1079 del C] + c. [1079delC])

Monfort 1998 [[23]]

42

M

2002

III-A

p. [F1625fsX6] +p. [ R206P]

Not previously reported

c. ([484–486 del TC] + c. ([617G>C ])

Montfort 1998 [[23]]

43

M

1991

III-A

p. [R433 W]+p. [R433W] (c. [12097C>T] + c. [1297C>T])

Beesley 2000 [[26]]

44***

F

1973

III-A

p. [V75RfsX116; V501M] (c. [221insC; 1501G>A]

45***

F

1976

III-A

p. [V75RfsX116; V501M] (c. [221insC; 1501G>A]

46

F

2008

III-A

p. [L343Pfsx158 ]+ p. [L343Pfsx158]

Monfort 1998 [[23]]

(c. [1027insC]+c. [127insC])

Weber 1997 [[21]]

52

F

1971

III-A

p. [R74H +?] (c. [221G>A + ?])

Bunge 1997 [[22]]

55

M

2010

III-A

p. [V361fsX52]+p. [S66W] (c. [.1079c >G] c. [197C>G])

Montfort 1998 [[23]] Montfort 2004 [[25]]

2

F

2004

III-B

p. [R38W]+ p. [R38W ] (c. [112C>T] + c. [112C>T])

Beesley 2005 [[27]]

3

F

2001

III-B

p. [R234C + L622P] +

Beesley 1998 [[28]]

c. (700 C >T+1865 >C )

Not previously reported

10

F

2004

III-B

p. [M338V] + [W404X+R541W]

Not previously reported

(c. [1012A>G]+[1211G>A+1621C>T])

Bunge 1999 [[29]]

18

M

2002

III-B

(c. [531+5G>A] +c. [531+5G>A]) IVS2+5G>A + IVS2+5G>A

Not previously reported

31

M

1991

III-B

(c. [531+5G>A ]+ c. [531+5G>A]) IVS2+5G>A + IVS2+5G>A

Not previously reported

32

F

2000

III-B

p. [R234C]+p. [W168X]

Beesley 1998 [[28]]

(c. [700C>T+503G>A])

Coll 2001 [[30]]

35

F

1990

III-B

p. [R643C+P115S](c. [1927C>T+ 343C>T])

Beesley 1998 [[28]]

Schmidtchen 1998 [[31]]

23

M

2003

III-C

C. [372-2A>G + 372-2A>G]

Canals 2011 [[17]]

(IVS3-2A>G + IVS3-2A>G)

33

M

1987

III-C

c. [234+1G>A] + c. [234+1G>A] (IVS2 + 1G>A + IVS2+1G>A)