Table 1 Biochemical and mutational analysis of positive mucopolysaccharide type I (MPS I) newborns in Tuscany and Umbria Regions, Italy by lysosomal storage disease (LSD) screening
Patient no. | Gender | Ethnic origin | Country | NBS enzyme activity, triplex (N.V. > 3.74 μmol/L/h) | NBS enzyme activity, single reaction (N.V. > 5.4 μmol/L/h) | Gene | cDNA variation | Protein variation | Mutation type | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|
P1-IDUA | F | European | Italy | 1.36 | 3.4 | IDUA | c.246C > G/ c.1205G > A | p.His82Gln/ p.Trp402* | Missense Nonsense | Pseudo/Hurler |
P2-IDUA | M | North Africa | Morocco | 0.96 | 4.2 | IDUA | c.246C > G/ c.1757C > T | p.His82Gln/ p.Ser586Phe | Missense Missense | Pseudo/VUS |
P3-IDUA | M | North Africa | Morocco | 1.77 | 4.4 | IDUA | c.1598C > G/wt | p.Pro533Arg/wt | Missense | Hurler/wt |
P4-IDUA | F | European | Italy | 1.4 | 3.8 | IDUA | c.246C > G/ c.1716C > G | p.His82Gln/ p.His572Gln | Missense Missense | Pseudo/VUS |
P5-IDUA | F | West Africa | Nigeria | 1.39 | 3.48 | IDUA | c.235G > A/+ | p.Ala79Thr/+ | Missense | Pseudo |
P6-IDUA | F | West Africa | Ivory Coast | 1.4 | 3.52 | IDUA | c.235G > A/+ | p.Ala79Thr/+ | Missense | Pseudo |
P7-IDUA | F | West Africa | Senegal | 1.47 | 3.9 | IDUA | c.235G > A/+ | p.Ala79Thr/+ | Missense | Pseudo |
P8-IDUA | F | West Africa | Senegal | 1.47 | 3.9 | IDUA | c.235G > A/+ | p.Ala79Thr/+ | Missense | Pseudo |