new genetic analysis in cases with hunter syndrome in whom <i>ids</i> gene mutations could not be detected: rna sequencing

Introduction: mucopolysaccharidosis-ii (mpsii) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase ( ids) gene confirms the diagnosis in a male proband. case presentation: we report a five-year-old boy with mpsii in whom no mutation was detected in the idsgene by next-generation sequencing (miseq-illumina) covering the coding regions of the gene. therefore, we tried to detect the mutation in the idsgene using rna sequencing that has recently been used. conclusions: in some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. in these cases, we emphasize that mutations should be investigated using other methods, including rna sequencing.