Article
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Diagnostic pathology - 29 May 2018
Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandrine
Abstract excerpt
BACKGROUND: The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and to investigate the effect of the novel splice site...
Topics
- Child
- Child, Preschool
- Female
- Humans
- Iduronidase
- Male
- Mucopolysaccharidosis I
- Mutation
- Pedigree
- Tunisia