Table 2 Biochemical and mutational analysis of newborns with mucopolysaccharide type I (MPS I) deficiency in northeast Italy by lysosomal storage disease (LSD) screening
Patient no. | Sex | Ethnic origin | Country | Enzyme activity screening | Gene | cDNA variation | Protein variation | Mutation type | Phenotype | Zygosity |
|---|---|---|---|---|---|---|---|---|---|---|
P1-IDUA | M | West Africa | Burkina Faso | 0.1 | IDUA | c.235G > A | p.Ala79Thr | Missense | Pseudo | Homozygous |
P2-IDUA | F | North Africa | Morocco | 0.22 | IDUA | c.1598C > G | p.Pro533Arg | Missense | Hurler/Scheie | Homozygous |
P3-IDUA | M | North Africa | Morocco | 0.41 | IDUA | c.235G > A c.1081G > A c.1743C > G | p.Ala79Thr p.Ala361Thr p.Tyr581Ter | Missense Missense Nonsense | Pseudo Pseudo Hurler | Heterozygous Heterozygous Heterozygous |
P4-IDUA | M | West Africa | Niger | 0.54 | IDUA | c.235G > A c.296C > T c.667G > A | p.Ala79Thr p.Thr99Ile p.Asp223Asn | Missense Missense Missense | Pseudo Pseudo Pseudo | Heterozygous Heterozygous Heterozygous |
P5-IDUA | F | West Africa | Gambia | 0.58 | IDUA | c.235G > A c.1081G > A | p.Ala79Thr p.Ala361Thr | Missense Missense | Pseudo Pseudo | Homozygous Homozygous |
P6-IDUA | F | European | Italy | 0.71 | IDUA | c.46_57del c.246C > G | p.(Ser16_Ala19del) p.His82Gln | Deletion Missense | Hurler Pseudo | Heterozygous Heterozygous |
P7-IDUA | M | West Africa | Niger | 0.72 | IDUA | c.235G > A | p.Ala79Thr | Missense | Pseudo | Homozygous |
P8-IDUA | M | North Africa | Morocco | 1.16 | IDUA | c.787A > T c.1757C > T | p.Arg263Trp p.Ser586Phe | Missense Missense | Pseudo VUS | Heterozygous Heterozygous |
P9-IDUA | F | North Africa | Morocco | 0.53 | IDUA | c.235G > A | p.Ala79Thr | Missense | Pseudo | Heterozygous |
P10-IDUA | F | European | Italy | 0.55 | IDUA | c.1577 T > C | p.Leu526Pro | Missense | VUS | Homozygous |
P11-IDUA | F | West Africa | Niger | 0.59 | IDUA | c.787A > T c.1949C > T | p.Arg263Trp p.Pro650Leu | Missense Missense | Pseudo VUS | Heterozygous Heterozygous |
P12-IDUA | F | West Africa | Camerun | 0.66 | IDUA | c.235G > A | p.Ala79Thr | Missense | Pseudo | Heterozygous |
P13-IDUA | F | West Africa | Niger | 2.21 | IDUA | c.235G > A | p.Ala79Thr | Missense | Pseudo | Heterozygous |