Identification and Functional Characterization of <i>IDS</i> Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).

The percentages of IDS activity expressed in transfected COS-7 cells of individual novel missense mutations for c.137A>C, c.311A>T, c.454A>C, c.797C>G, c.817C>T, c.998C>T, c.1106C>G, c.1400C>T, c.1402C>T, and c.1403G>A ranged from 0% to 2.2%, and were extremely significant compared to the wild type ( p <0.001).

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In addition, the IDS activity expressions were 22.6% and 41.8% for c.254C>T and c.1025A>G mutations, respectively, which were highly significant compared to the wild type ( p < 0.01), and the IDS activity expression of c.851C>T was 62.3% which was significant compared to the wild type ( p < 0.05).

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