Article
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
Human genetics - 1 Jun 1991
Wraith J E, Cooper A, Thornley M, Wilson P J, Nelson P V, Morris C P, Hopwood J J
Abstract excerpt
Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other. It is speculated that loss of adjacent loci may contribute to the unusual...
Topics
- Blotting, Southern
- Child
- Chromosome Deletion
- Humans
- Iduronate Sulfatase
- Male
- Mucopolysaccharidosis II
- Phenotype