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

Gloria Bonuccelli; Stefano Regis; Mirella Filocamo; Fabio Corsolini; Francesco Caroli; Rosanna Gatti

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

Gloria Bonuccelli, Stefano Regis, Mirella Filocamo, Fabio Corsolini, Francesco Caroli, Rosanna Gatti

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	474-477
Number of pages	4
Journal	Clinical Genetics
Volume	53
Issue number	6
Publication status	Published - Jun 1998

Keywords

Deletion
Hunter syndrome
Iduronate-2-sulfatase
Mutation analysis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

keywords = "Deletion, Hunter syndrome, Iduronate-2-sulfatase, Mutation analysis",

author = "Gloria Bonuccelli and Stefano Regis and Mirella Filocamo and Fabio Corsolini and Francesco Caroli and Rosanna Gatti",

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T1 - A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome

AU - Bonuccelli, Gloria

AU - Regis, Stefano

AU - Filocamo, Mirella

AU - Corsolini, Fabio

AU - Caroli, Francesco

AU - Gatti, Rosanna

PY - 1998/6

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N2 - 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.

AB - 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.

KW - Deletion

KW - Hunter syndrome

KW - Iduronate-2-sulfatase

KW - Mutation analysis

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