Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families
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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.
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- Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families
Journal of Inherited Metabolic Disease
Volume 28, Issue 6 , pp 1019-1026
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- Kluwer Academic Publishers
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- 1. Mount Sinai School of Medicine, New York University, New York, USA
- 2. Faculty of Pharmacy, Monastir, Tunisia
- 3. F Hached Hospital, Sousse, Tunisia
- 4. H Chaker Hospital, Sfax, Tunisia
- 5. Department of Human Genetics, Mount Sinai School of Medicine, New York University, 5th Ave. at 100th Street, New York, NY, 10029, USA