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:10.1186/174615966113 