title: [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
abstract: Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. The aim of our study was to propose in Tunisia a strategy of molecular and prenatal diagnosis of the MPS I.
  
  
  METHODS
  Our study was carried out on 8 MPS I patients recruited from different Tunisian regions and issued from 5 unrelated families. All the patients were offspring of consanguineous marriages.
  
  
  RESULTS
  The clinical and biological study led to diagnose 5 Hurler patients and 3 Hurler-Scheie patients. Three IDUA mutations were identified by molecular analysis within 6 different families: a novel mutation p.F602X and 2 already described mutations p.P533R and p.R628X.
  
  
  CONCLUSIONS
  MPS I is a heterogeneous disease characterized by variability of the phenotypes. The missense mutation p.P533R associated with the intermediate phenotype was the most frequent in the Tunisian but also in the Moroccan population. In Tunisia, the incidence of p.P533R mutation seems to be associated with the high frequency of consanguineous marriages.
  
  
  CONCLUSIONS
  The identification of known MPS I mutations (p.P533R and p.R628X) and of the novel mutation p.F602X permits reliable genetic counselling of at-risk relatives and molecular prenatal diagnosis.
authors.affiliation: Laboratoire de biochimie, CHU Farhat-Hached, 4000 Sousse, Tunisie. chkioualatifa2002@yahoo.fr
authors.forename: L
authors.initials: L
authors.lastname: Chkioua
authors.forename: S
authors.initials: S
authors.lastname: Khedhiri
authors.forename: Z
authors.initials: Z
authors.lastname: Jaidane
authors.forename: S
authors.initials: S
authors.lastname: Ferchichi
authors.forename: S
authors.initials: S
authors.lastname: Habib
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: V
authors.initials: V
authors.lastname: Bonnet
authors.forename: M
authors.initials: M
authors.lastname: Chaabouni
authors.forename: A
authors.initials: A
authors.lastname: Dandana
authors.forename: T
authors.initials: T
authors.lastname: Jrad
authors.forename: H
authors.initials: H
authors.lastname: Limem
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: M
authors.initials: M
authors.lastname: Abdelhedi
authors.forename: S
authors.initials: S
authors.lastname: Laradi
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation; D014416:Tunisia
chemical_list: D007068:Iduronidase