Table 2 Biochemical and molecular MPS II profiles in Tunisian patients

Sex

M

M

M

M

M

M

M

F

M

M

M

M

Consanguinity

unrelated

1st cousins

3rd cousins

unrelated

1st cousins

unrelated

unrelated

1st cousins

unrelated

unrelated

unrelated

1st cousins

Origin

Tunis

Sfax

Kairouan

Sousse

Tunis

Sfax

Beja

Monastir

Sousse

Sousse

Mahdia

Sousse

Urine GAGs¹ mg/g/creatinine

93.4

30.0

95.0

48.0

56.8

105

116

125

28.4

65.8

23.3

83.9

Age at diagnosis (years/months)

4

1 /6

4

6

3

4/ 2

4

3

2

3

9

12

Actual age of patients (years)

4

18

22

26

5

5

7

9 (died)

9 (died)

19 (died)

29 (died)

39 (died)

Leukocytes IDS activity (nmol/h/mg protein)

0.20

0.20

0.50

0.00

0.750

0.00

0.00

0.39

0.059

0.00

0.65

1.5

Mutations

c.240 + 1 G > A

p.R88P

Ex1_7del^a

p.Q396*

p.G94D

p.D450Nfs*95

p.Q204*

p.R88P^b

None found

None found

None found

None found

Location

INTRON 2

EXON 3

*

EXON 9

EXON 3

EXON9

EXON 5

EXON 3

Restriction enzyme

(−) ECO64I

(−) ACC II

–

(−) Cac8I

(−) BseNI

(−) BamHI

(−) Cac8I

(−) ACC II

Fragment length (bp)

N: 373

M: 180 + 193

N: 91 + 432

M: 523

–

N: 49 + 54 + 119 + 333

M: 95 + 119 + 173

N: 37 + 46 + 109 + 331

M: 37 + 155 + 331

N: 137 + 303

M: 440

N: 200 + 280

N: 91 + 432

M: 523

Status

reported

reported

reported

reported

reported

Novel

Novel

reported

Reference

[11]

[12]

[10]

[11]

[4]

This report

This report

[12]

Polymorphisms

c.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > C

none

none

c.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > C

c.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > C

c.419–16 delT; c.641C > T (p.T214M); c.438 C > T (p.T146T); c.709-87G > A; c.1006 + 38 T > C

Phenotype

severe

severe

Severe

severe

Mild

severe

Severe

severe