Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype / p
Detection of four novel mutations in the iduronate-2-sulfatase gene
โ Scribed by Nicola Balzano; Guglielmo R. D. Villani; Michela Grosso; Paola Izzo; Paola Di Natale
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 63 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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โฆ Synopsis
Hunter disease, mucopolysaccharidosis type II or MPS II (OMIM *309900) iduronate-2-sulfatase : IDS (GDB) Abbreviations amplification refractory system : ARMS, iduronate-2-sulfatase : IDS
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We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearr
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Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are he
## Communicated by William S. Sly Hunter disease is an X-linked recessive mucopolysaccharide storage disorder caused by iduronate-2sulfatase deficiency and is rare in females. We describe here findings in a girl with Hunter disease of the severe type. She had a normal karyotype but a marked defici