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)

3rd degree

p.F602XH

Hurler

[11]


2

55 years (M), 65 years (F)

2/2

Gabes (South)

1st degree

p.P533RH

Hurler

[11]


3

40 years (M), 49 years (F)

2/2

Djerba Island (South)

2rd degree

p.P533RH

Hurler/Scheie

[11]


4

34 years (M), 40 years (F)

1/3

Tunis (North)

1st degree

p.P533RH

Hurler/Scheie

[11]


5

50 years (M), 62 years (F)

1/6

Mahdia (Center)

1st degree

p.R628XH

Hurler

[11]


6

42 years (M), 50 years (F)

1/3

Sousse (Center)

1st degree

p.P533RH

Hurler

[11]


7

37 years (M), 44 years (F)

1/6

Djerba Island (South)

2rd degree

p.L578Q/p.P533R

Scheie

[11]


8

38 years (M), 46years (F)

1/1

Makther

2rd degree

p.Y581XH

Hurler

[11]


A

42 years (M), 46 years (F)

1/3

Sfax (sud)

3rd degree

p.P533RH

Scheie

[12]


B

41 years (M), 41 years (F)

1/6

Djerba Island (South)

2rd degree

p.P533RH

Hurler

[12]


C

37 years (M), 44 years (F)

1/0

Bizerte (North)

1st degree

p.L530fsH

Hurler

[12]


D

39 years (M), 39 years (F)

1/2

Tunis (North)

1st degree

p.Y581XH

Hurler

[12]


E

38 years (M), 42years (F)

1/2

Tunis (North)

1st degree

p.F177SH

Hurler

[12]


F

42 years (M), 46 years (F)

1/7

Djerba Island (South)

2rd degree

p.P533RH

Hurler

[12]


M: Mother

F: Father

H: homozygous status

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

Open Data