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

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

Infant numbers	Sex	Ages (Ms) of the test	Ages (Yrs) at last follow up	Nucleotide Variation(s)	Protein Variation(s)	Exon	Known^Ref./ 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

^aIDS enzyme activity (Ref. 12.89 ~ 131.83 μmol/g protein/4 h)
^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

ISSN: 1750-1172