Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families

S. Laradi, T. Tukel, M. Erazo, J. Shabbeer, L. Chkioua, S. Khedhiri, S. Ferchichi, M. Chaabouni, A. Miled, R. J. Desnick

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23 Scopus citations


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 severe and milder phenotypic subtypes. The IDUA mutations in five MPS I patients from three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons and intron-exon junctions. Two novel IDUA mutations, c.1805delTinsGAACA in exon 13 and I270S in exon 7, and two previously reported mutations, P533R and R628X, were detected. The two patients in family 1 who had the Hurler phenotype were homoallelic for the novel deletion-insertion mutation. The patient in family 2 who also had the Hurler phenotype was heteroallelic for the novel missense mutation I270S and the previously reported nonsense mutation R628X. The two patients in family 3 who had the Hurler-Scheie phenotype were homoallelic for P533R. In addition, six known IDUA polymorphisms were identified. These are the first Tunisian MPS I patients to be genotyped. The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists.

Original languageEnglish
Pages (from-to)1019-1026
Number of pages8
JournalJournal of Inherited Metabolic Disease
Issue number6
StatePublished - Dec 2005
Externally publishedYes


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