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A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome
Author(s) -
Bonuccelli Gloria,
Regis Stefano,
Filocamo Mirella,
Corsolini Fabio,
Caroli Francesco,
Gatti Rosanna
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02598.x
Subject(s) - exon , mucopolysaccharidosis type ii , hunter syndrome , frameshift mutation , genetics , intron , mutation , biology , gene , mucopolysaccharidosis , microbiology and biotechnology , medicine , disease , enzyme replacement therapy , biochemistry
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.