Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

ABSTRACT:

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 mutation on splicing of IDUA- mRNA variability using bioinformatics tools.

Methods

The IDUA mutations were determined in four MPS I patients from four families from Northern Tunisia, by amplifying and sequencing each of the IDUA exons and intron-exon junctions.

Results

One novel splice site IDUA mutation, c.1650 + 1G > T in intron 11 and two previously reported mu

SUBMITTER: Chkioua L 

PROVIDER: S-EPMC5975427 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature