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

研究成果: Article

4 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)273-275
頁數3
期刊Journal of the Formosan Medical Association
104
發行號4
出版狀態Published - 2005 十二月 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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