Molecular analysis of mucopolysaccharidosis type I in Tunisia: Identification of novel mutation and eight Novel polymorphisms

Patients and methods: In this study, the IDUA mutations in eight unrelated Tunisian families were performed by amplifying and sequencing the IDUA exons and intron-exon jonctions.Results: Five IDUA mutations were detected: one is the L578Q, a novel mutation found, in milder patient. The others were the previously described: P533R, Y581X, F602X and R628X that produce a severe and intermediate phenotype. In addition, eighteen variants, including eight previously unreported polymorphisms (IVS6+21c > a, IVS7+79c > t, IVS7-45 g > c, IVS9+36t > c, IVS10+140c > a, IVS11+33c > t, IVS12+13c > t and IVS12-31c > g), were detected.Conclusion: This paper, showed a heterogeneous pattern of mutations and polymorphisms among Tunisian patients. © 2011 Latifa et al; licensee BioMed Central Ltd.