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Table 2 Summary of the biochemical and molecular findings in the MPS II newborn screening test (IDS gene)

From: Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Infant numbers Sex Ages (Ms) of the test Ages (Yrs) at last follow up Nucleotide Variation(s) Protein Variation(s) Exon KnownRef./ Novel IDS enzyme activity a GAG tests b
1-49 Male    [c.103 + 34_56dup] [−] 1~ 2 (Intron-1) Novel 3.86 ± 2.24 Negative
50-56 Male    [c.301C > T] [p.R101C] 3 Known [48] 25.82 ± 9.04 Negative
57-66 Male    [c.1499C > T] [p.T500I] 9 Known [49] 17.15 ± 3.69 Negative
67-70 Male    [c.1478G > A] [p.R493H] 9 Novel 26.37 ± 10.98 Negative
71 Male 0.9 0.7 [c.817C > T] [p.R273W] 6 Novel 0.20 Positive
72 Male    [c.589C > T] [p.P197S] 5 Novel 7.80 Negative
73 Male 1.6 0.3 [c.1025A > G] [p.H342R] 8 Novel 0.40 Positive
74 Male 0.9 0.3 [c.311A > T] [p.D104V] 3 Novel 0.32 Positive
75 Male    [c.851C > T] [p.P284L] 6 Known [50] 0.51 Negative
76 Male    [c.103 + 34_56dup] + [c.851C > T] [−] + [p.P284L] 1~ 2 (Intron-1), 6 Novel/ Known [50] 1.29 Negative
77 Male    [c.103 + 34_56dup] + [c.851C > T] + [c.1180 + 184 T > C] [−] + [p.P284L] 1~ 2 (Intron-1), 6
8~ 9 (Intron-8)
Novel/ Known [50]/Novel 4.50 Negative
78 Male    [c.890G > A] [p.R297H] 7 Novel 9.20 Negative
  1. aIDS enzyme activity (Ref. 12.89 ~ 131.83 μmol/g protein/4 h)
  2. bGAG tests including GAG quantification (DMB/Cre ratio), 2-dimensional electrophoresis, and quantitative analyses of GAG-derived disaccharides (DS and HS) by tandem mass spectrometry assay