title: Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
abstract: BACKGROUND
  Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.
  
  
  OBJECTIVE
  This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.
  
  
  METHODS
  Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.
  
  
  RESULTS
  Two novel IDUA mutations, p.L530fs (1587_1588 insGC) in exon 11 and p.F177S in exon 5 and two previously reported mutations p.P533R and p.Y581X were detected. The patient in family 1 who has the Hurler phenotype was homozygous for the previously described nonsense mutation p.Y581X.The patient in family 2 who also has the Hurler phenotype was homozygous for the novel missense mutation p.F177S. The three patients in families 3, 5 and 6 were homozygous for the p.P533R mutation. The patient in family 4 was homozygous for the novel small insertion 1587_1588 insGC. In addition, eighteen known and one unknown IDUA polymorphisms were identified.
  
  
  CONCLUSIONS
  The identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.
authors.affiliation: Laboratory of Biochemistry, Farhat Hached Hospital, 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: Hadhami Ben
authors.initials: HB
authors.lastname: Turkia
authors.forename: Rémy
authors.initials: R
authors.lastname: Tcheng
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.forename: Henda
authors.initials: H
authors.lastname: Chahed
authors.forename: Salima
authors.initials: S
authors.lastname: Ferchichi
authors.forename: Marie Françoise
authors.initials: MF
authors.lastname: Ben Dridi
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: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008297:Male; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D014416:Tunisia
chemical_list: D007068:Iduronidase