A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME

Authors
BONUCCELLI G REGIS S FILOCAMO M CORSOLINI F CAROLI F GATTI R
Citation
G. Bonuccelli et al., A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME, Clinical genetics, 53(6), 1998, pp. 474-477
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
53
Issue
6
Year of publication
1998
Pages
474 - 477
Database
ISI
SICI code
0009-9163(1998)53:6<474:ADIEIT>2.0.ZU;2-V
Abstract
A large deletion in the iduronate-2-sulfatase (IDS) gene has been foun d in a patient affected by an intermediate form of Hunter syndrome (mu copolysaccharidosis II). The deletion involves exons 2-4, the breakpoi nts lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 juncti on due to the deletion resulting in a frameshift mutation.