A novel silent mutation at exon 9 of iduronate-2-sulfatase gene in an Indonesian patient with mucopolysaccharidosis type II

This study aimed to assess the data available on mucopolysaccharidosis type II (MPS II) from the Pediatric Department of Cipto Mangunkusumo National Hospital and to investigate unrelated Indonesian patients with MPS II in order to characterize their genotypes. Mutational analysis was performed on DNA extracted from whole blood samples of 6 patients with MPS II after designing primers, amplifying exon 9, visualizing the amplification product; sequencing the product, and analyzing the exon 9 sequence. Silent mutation was detected at c.1404G>A at exon 9 of the iduronate-2-sulfatase (IDS) gene in only 1 of the 6 patients. The mutation did not change the amino acid in the IDS enzyme. The silent mutation detected in this study is a novel mutation not reported earlier. The reported data is expected to contribute to the formation of new database of mutations for patients with MPS II, especially in Indonesia.