Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice
Diagnosis of Hunter syndrome: identification of iduronate-2-sulfatase gene mutations in patients with mucopolysaccharidosis type II in Chinese
β Scribed by Zhang Chunya; Li Luyun; Liu Shangfeng; Fu JunJiang; Lu Guangxiu
- Book ID
- 119421102
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 57 KB
- Volume
- 80
- Category
- Article
- ISSN
- 1556-5653
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## Communicated by Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase
Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
## Communicated by Yusuke Nakamura Mucopolysaccharidosis type If (Hunter disease) is a lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. Varied clinical phenotypes of this disease have been described. To identify mutations in individual patients and to examine
Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot