A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome

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Abstract

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.

Original languageEnglish
Pages (from-to)273-275
Number of pages3
JournalJournal of the Formosan Medical Association
Volume104
Issue number4
Publication statusPublished - 2005 Dec 1

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Iduronate Sulfatase
Mucopolysaccharidosis II
Sequence Deletion
Genes
Bilateral Hearing Loss
Phenotype
Kyphosis
Hepatomegaly
Hypertrophic Cardiomyopathy
Nucleic Acid Databases
Intellectual Disability
Introns
Exons
Joints

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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title = "A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome",
abstract = "Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.",
author = "Yen-Yin Chou and Sheau-Chiou Chao and Pao-Lin Kuo and Lin, {Shio Jean}",
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T1 - A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome

AU - Chou, Yen-Yin

AU - Chao, Sheau-Chiou

AU - Kuo, Pao-Lin

AU - Lin, Shio Jean

PY - 2005/12/1

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N2 - Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.

AB - Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.

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