Background
Material and methods
Patients and data base
Biochemical diagnosis
Molecular genetic studies
Case number | M/F | Year of birth | MPS III subtype | Mutation | Reference |
---|---|---|---|---|---|
1
|
M
|
2004
|
III-A
|
p. [L343Pfsx158]+ p. [D235N]
| |
(c. [1027dupC]+c. [703G>A])
| |||||
8
|
F
|
1998
|
III-A
|
p. [A354P]+ p. [L343Pfsx158]
| |
(c. [1027 dupC] + (c. [1063G>C])
| |||||
9
|
M
|
1996
|
III-A
| p. [R74C +?] (c. [220C>T +?]) | |
14
|
F
|
1996
|
III-A
| p. [R74C + R47C] (c. [220C>T + 220C>T ]) | |
15
|
M
|
2005
|
III-A
|
p. [R433Q]+ p. [R433Q] (c. [1298G>A]+
| |
c. [1298G>A ])
| |||||
17
|
M
|
1997
|
III-A
|
p. [V361fsX52)+ V361fsX52] ( c. [1079 del C + 1079delC])
| |
19
|
M
|
2001
|
III-A
|
p. [V361fsX52 ]+p. [ R433Q] (c. [1079 del C] +c. [1298G>A])
| |
21
|
F
|
2000
|
III-A
|
p. [S66W +?] (c. [197C>G +?])
| |
only Father mutation found
| |||||
24 *
|
M
|
1976
|
III-A
|
p. [V361fsX52]+ p. [V361fsX52] (c. [1079 del C] + c. [1079delC])
| |
25*
|
M
|
1986
|
III -A
|
p. [V361fsX52]+ p. [V361fsX52] ( c. [1079 del C] + c. [1079delC])
| |
26
|
F
|
1990
|
III-A
|
p. [S66W ]+ p. [R74H]
| |
(c. [197C>G] + c. [220C>T])
| |||||
27 **
|
M
|
1981
|
III-A
|
p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C])
| |
28**
|
M
|
1984
|
III-A
|
p. (V361fsX52)+ p. (R206P) (c. [1079 del C]+ c. [617G>C])
| |
36
|
F
|
2007
|
III-A
|
p. [R74C]+ p. [Q85R]
| |
(c. [220C>T] +c. [254A>G])
| |||||
37
|
F
|
2009
|
III-A
|
p. [V361SfsX52] + p. [V361fsX52] (c. [1079 del C] +
| |
c. [1079 del] )
| |||||
39
|
M
|
2005
|
III-A
|
p. [V361fsX52)+ p. [V361fsX52] c. [1079 del C] + c. [1079delC])
| |
42
|
M
|
2002
|
III-A
|
p. [F1625fsX6] +p. [ R206P]
|
Not previously reported
|
c. ([484–486 del TC] + c. ([617G>C ])
| |||||
43
|
M
|
1991
|
III-A
|
p. [R433 W]+p. [R433W] (c. [12097C>T] + c. [1297C>T])
| |
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]
| |
(c. [1027insC]+c. [127insC])
| |||||
52
|
F
|
1971
|
III-A
|
p. [R74H +?] (c. [221G>A + ?])
| |
55
|
M
|
2010
|
III-A
|
p. [V361fsX52]+p. [S66W] (c. [.1079c >G] c. [197C>G])
| |
2
|
F
|
2004
|
III-B
|
p. [R38W]+ p. [R38W ] (c. [112C>T] + c. [112C>T])
| |
3
|
F
|
2001
|
III-B
|
p. [R234C + L622P] +
| |
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])
| |||||
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]
| |
(c. [700C>T+503G>A])
| |||||
35
|
F
|
1990
|
III-B
|
p. [R643C+P115S](c. [1927C>T+ 343C>T])
| |
23
|
M
|
2003
|
III-C
|
C. [372-2A>G + 372-2A>G]
| |
(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)
|
Statistical analysis
Ethical aspects
Results
Early psychomotor development
First clinical symptoms before diagnosis
Symptoms before diagnosis | MPS Subtype (N°) | N° casos | Median | |||
---|---|---|---|---|---|---|
A | B | C | Age | |||
(Range) | ||||||
Coarse facial features
|
24
|
9
|
9
| 42 |
78%
| 3 years |
( 1 – 4 y) | ||||||
Recurrent diarrhea
|
17
|
4
|
6
| 27 |
50%
| 2 years |
(1 – 4.5 y) | ||||||
Umbilical hernia
|
7
|
4
|
1
| 12 |
22%
| 1 months |
(0 – 8 months) | ||||||
Inguinal hernia
|
4
|
0
|
0
| 4 |
7%
| 1,6 year |
( 0–3 y) | ||||||
Recurrent otitis
|
15
|
5
|
5
| 25 |
46%
| 1 year |
(0–3.5 y) | ||||||
Hearing loss
|
12
|
2
|
6
| 11 |
30%
| 2.2 year |
(1.5 – 6 y) | ||||||
Adenoidectomy
|
14
|
2
|
7
| 23 |
43%
| 3 year |
(2 – 6 y) | ||||||
Tonsillectomy
|
8
|
3
|
4
| 15 |
28%
| 3.8 year |
(2 – 9 y) | ||||||
Speech delayed
|
27
|
11
|
8
| 46 |
85%
| 3 year |
(2.5 – 7 y) | ||||||
Hyperactivity
|
21
|
6
|
8
| 35 |
65%
| 3 year |
(1.5 – 10 y) | ||||||
Sleep disorders
|
14
|
5
|
5
| 24 |
44%
| 1 year |
( 2 months -6 y) |