families | patients | Parental consanguinity | MPS I phenotype | Mutations | Polymorphisms |
---|---|---|---|---|---|
I | 1 | 3rd cousins | severe | Â | 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 |