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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mucopolysaccharidosis type I: Molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
Diagnostic Pathology, Volume 6, No. 1, Article 47, Year 2011
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Description
Background: Mucopolysaccharidosis 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 methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.Results: Two 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.Conclusion: The identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia. © 2011 Chkioua et al; licensee BioMed Central Ltd.
Authors & Co-Authors
Chkioua, Latifa
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Khedhiri, Souhir
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Ben Turkia, Hadhami
Tunisia, Tunis
Hôpital la Rabta
Tcheng, Rémy
France, Bron
Center of Biology
Froissart, Roseline
France, Bron
Center of Biology
Chahed, Henda
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Ferchichi, Salima
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Ben Dridi, Marie Françoise
Tunisia, Tunis
Hôpital la Rabta
Vianey-Saban, Christine
France, Bron
Center of Biology
Laradi, Sandrine
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Miled, Abdelhédi
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Statistics
Citations: 20
Authors: 11
Affiliations: 4
Identifiers
Doi:
10.1186/1746-1596-6-47
e-ISSN:
17461596
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Locations
Tunisia