Table 2

Genotypes Characteristics of MPS I Tunisians patients

families

patients

Parental consanguinity

MPS I phenotype

Mutations

Polymorphisms


I

1

3rd cousins

severe

A8A, A20A, H33Q, R105Q, A314A

2

F602X/F602X

3


II

4

1st cousins

severe

P533R/P533R

Not tested

5


III

6

1st cousins

intermediate

P533R/P533R

A8A, A20A, H33Q, R105Q, A314A

7


IV

8

3rd cousins

intermediate

P533R/P533R

Not tested


V

9

1st cousins

severe

R628X/R628X

A8A, A20A, H33Q, R105Q, A314A, N181N, T410T, V554I,

IVS6+21c > a, IVS7+79c > t, IVS7-45 g > c, IVS9+36t > c, IVS10+140c > a, IVS11+33c > t, IVS12+13c > t, IVS12-31c > g


VI

10

1st cousins

severe

P533R/P533R

A8A, A20A, H33Q, R105Q, A314A, N181N, T410T, V554I,

IVS6+21c > a, IVS7+79c > t, IVS7-45 g > c, IVS9+36t > c, IVS10+140c > a, IVS11+33c > t, IVS12+13c > t, IVS12-31c > g


VII

11

2 nd cousins

mild

L578Q/P533R

A8A, A20A, H33Q, R489R


VIII

12

2nd cousins

severe

Y581X/Y581X

H33Q


Chkioua et al. Diagnostic Pathology 2011 6:39   doi:10.1186/1746-1596-6-39

Open Data