A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
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.
Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Genova, Italy.
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Bonuccelli
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Regis
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Filocamo
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Corsolini
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Caroli
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Gatti
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics; D017384:Sequence Deletion
D018076:DNA, Complementary; D007066:Iduronate Sulfatase