Fig. 5

Molecular IDUA and IDS gene analyses. A total of 12 and 11 variation alleles of the IDUA and IDS genes were found, respectively. Of these alleles, four of 12 IDUA mutations (c.300-3C > G, c.1874A > C, c.1037 T > G, and c.1091C > T) were identified as being pathogenic and causing marked reductions in IDUA enzyme activity. In IDS gene molecular analysis, three mutation alleles (c.817C > T, c.1025A > G, and c.311A > T) were verified as being pathogenic genes that may cause deficiencies in IDS enzyme activity. The most common IDS variation allele found in this study was c.103 + 34_56dup, and the IDS enzyme activity appeared to be lower than 10 to 15% of normal when encoded with this variation allele