ArticleDiagnostic pathology2011
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Article in Diagnostic pathology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.BMC genomics · 2024Article
- Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.Diagnostic pathology · 2018Article
- Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Molecular genetics and metabolism reports · 2017Article
- Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.International journal of molecular sciences · 2016Article
- Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.Journal of human genetics · 2014Article
- Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.Metabolic brain disease · 2014Review
- An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.Orphanet journal of rare diseases · 2013Article
- Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.Diagnostic pathology · 2011Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes. AIM OF STUDY: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia. PATIENTS AND
methodsMutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.
resultsTwo novel IDUA mutations, p.L530fs (1587_1588 insGC) in exon 11 and p.F177S in exon 5 and two previously reported mutations p.P533R and p.Y581X were detected. The patient in family 1 who has the Hurler phenotype was homozygous for the previously described nonsense mutation p.Y581X.The patient in family 2 who also has the Hurler phenotype was homozygous for the novel missense mutation p.F177S. The three patients in families 3, 5 and 6 were homozygous for the p.P533R mutation. The patient in family 4 was homozygous for the novel small insertion 1587_1588 insGC. In addition, eighteen known and one unknown IDUA polymorphisms were identified.
conclusionThe identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.
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