A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome

Abstract

A large deletion in the iduronate-2-sulfatase (IDS) gene has been found in a patient affected by an intermediate form of Hunter syndrome (mucopolysaccharidosis II). The deletion involves exons 2-4, the breakpoints lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 junction due to the deletion resulting in a frameshift mutation.