title: Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
abstract: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case).
  
  
  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.
  
  
  CONCLUSIONS
  This paper, showed a heterogeneous pattern of mutations and polymorphisms among Tunisian patients.
authors.affiliation: Biochemistry laboratory Farhat Hached Hospital, Street Doctor Moreau, 4000 Sousse, Tunisia. chkioualatifa2002@yahoo.fr
authors.forename: Latifa
authors.initials: L
authors.lastname: Chkioua
authors.forename: Souhir
authors.initials: S
authors.lastname: Khedhiri
authors.forename: Asma
authors.initials: A
authors.lastname: Kassab
authors.forename: Amina
authors.initials: A
authors.lastname: Bibi
authors.forename: Salima
authors.initials: S
authors.lastname: Ferchichi
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: Sandrine
authors.initials: S
authors.lastname: Laradi
authors.forename: Abdelhedi
authors.initials: A
authors.lastname: Miled
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007068:Iduronidase / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D014416:Tunisia
chemical_list: D007068:Iduronidase