Table 1

consanguinity profile and genotypes characteristics of MPS I Tunisians patients

MPS I families

age of parents at birth

relationship (affected/unaffected siblings)

origin

Consanguinity

Mutations

MPS I subtype

references

1

38 years (M), 40 years (F)

3/0

Sfax (South)

3^rd degree

p.F602X_H

Hurler

[11]

2

55 years (M), 65 years (F)

2/2

Gabes (South)

1^st degree

p.P533R_H

Hurler

[11]

3

40 years (M), 49 years (F)

2/2

Djerba Island (South)

2^rd degree

p.P533R_H

Hurler/Scheie

[11]

4

34 years (M), 40 years (F)

1/3

Tunis (North)

1^st degree

p.P533R_H

Hurler/Scheie

[11]

5

50 years (M), 62 years (F)

1/6

Mahdia (Center)

1^st degree

p.R628X_H

Hurler

[11]

6

42 years (M), 50 years (F)

1/3

Sousse (Center)

1^st degree

p.P533R_H

Hurler

[11]

7

37 years (M), 44 years (F)

1/6

Djerba Island (South)

2^rd degree

p.L578Q/p.P533R

Scheie

[11]

8

38 years (M), 46years (F)

1/1

Makther

2^rd degree

p.Y581X_H

Hurler

[11]

A

42 years (M), 46 years (F)

1/3

Sfax (sud)

3^rd degree

p.P533R_H

Scheie

[12]

B

41 years (M), 41 years (F)

1/6

Djerba Island (South)

2^rd degree

p.P533R_H

Hurler

[12]

C

37 years (M), 44 years (F)

1/0

Bizerte (North)

1^st degree

p.L530fs_H

Hurler

[12]

D

39 years (M), 39 years (F)

1/2

Tunis (North)

1^st degree

p.Y581X_H

Hurler

[12]

E

38 years (M), 42years (F)

1/2

Tunis (North)

1^st degree

p.F177S_H

Hurler

[12]

F

42 years (M), 46 years (F)

1/7

Djerba Island (South)

2^rd degree

p.P533R_H

Hurler

[12]

M: Mother

F: Father

_H: homozygous status

Chkioua et al. Diagnostic Pathology 2011 6:113   doi:10.1186/1746-1596-6-113