ResearchBib, Google Scholar, SIS database, i.f.s.i.j, Scribd, IISJ, Eurasian Scientific Journal Index (ESJI), Indianscience.in, arastirmax, Directory of Research Journals Indexing, Pak Academic Sesearch, AcademicKeays, CiteSeerX, UDL Library, CAS Abstracts, J-Gate, WorldCat, Scirus, IET Inspec Direct, and getCited

*Corresponding author Author & Copyright Author © 2020: | Fadoua Bouzid |. All Rights Reserved. All articles published in American Journal of Innovative Research and Applied Sciences are the property of Atlantic

Center Research Sciences, and is protected by copyright laws CC-BY. See: http://creativecommons.org/licenses/by-nc/4.0/

Authors Contact

Affiliation.

^2.Pediatric practice | Agadir | Morocco |

This article is made freely available as part of this journal's Open Access: ID | Fadoua-Ref.7-ajira190320 |

Abstract

Bachground: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by the deficiency of the α-L-iduronidase (IDUA) enzyme. This deficiency leads to the accumulation of dermatan sulfate and heparan sulfate. Objective: The aim of this study is to detect IDUA mutational spectrum in 14 Moroccan patients with MPS I. Methods: Diagnosis of MPS I was confirmed by a biochemical study. The molecular analysis was performed by direct sequencing of IDUA gene from DNA patients’ sample, their parents and control subjects. Result: In this series, we have detected the previously reported mutation p.P533R at homozygous state in 92.85% of studied patients and an unreported deletion mutation p.P515fs (c.1545delC) at heterozygous state in one patient, showing the Hurler phenotype. In addition, five polymorphisms in the homozygous or heterozygous states including two new variants were detected of studied patients. These non-pathogenic variants indicate a high degree of allelic heterogeneity explaining different observed phenotypes.
Keywords: Mucopolysaccharidosis type I; IDUA gene; p.R533P; p.P515fs; polymorphisms