title: Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
abstract: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia
  
  
  METHODS
  A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands. The IDS mutation and polymorphisms were determined on these probands and their family members by amplifying and sequencing each of the exons and intron-exon junctions of IDS gene.
  
  
  RESULTS
  The studied probands were homoallelic for p.R88P mutation. In addition, three known polymorphisms/sequence variants: IVS3-16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A) and one previously unknown: IVS7+38(c.1006+38T > C were identified in the MPS II patients. These are the first Tunisian MPS II patients to be genotyped.
  
  
  CONCLUSIONS
  The identification of these mutation and polymorphisms and their genotype-phenotype correlation should facilitate prenatal diagnosis and counseling for MPS II in Tunisia, where a very high rate of consanguinity exists.
authors: Biochemistry Laboratory Farhat Hached Hospital, 4000 Sousse, Tunisia. chkioualatifa2002@yahoo.fr
authors: Latifa
authors: L
authors: Chkioua
authors: Souhir
authors: S
authors: Khedhiri
authors: Salima
authors: S
authors: Ferchichi
authors: Rémy
authors: R
authors: Tcheng
authors: Henda
authors: H
authors: Chahed
authors: Roseline
authors: R
authors: Froissart
authors: Christine
authors: C
authors: Vianey-Saban
authors: Sandrine
authors: S
authors: Laradi
authors: Abdelhedi
authors: A
authors: Miled
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