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

11Citations
Citations of this article
13Readers
Mendeley users who have this article in their library.

Abstract

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.

Cite

CITATION STYLE

APA

Chkioua, L., Khedhiri, S., Kassab, A., Bibi, A., Ferchichi, S., Froissart, R., … Miled, A. (2011). Molecular analysis of mucopolysaccharidosis type I in Tunisia: Identification of novel mutation and eight Novel polymorphisms. Diagnostic Pathology, 6(1). https://doi.org/10.1186/1746-1596-6-39

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free