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Open Access Case Report

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

Latifa Chkioua12*, Souhir Khedhiri12, Salima Ferchichi12, Rémy Tcheng3, Henda Chahed12, Roseline Froissart3, Christine Vianey-Saban3, Sandrine Laradi12 and Abdelhedi Miled12

Author affiliations

1 Biochemistry Laboratory Farhat Hached Hospital, 4000 Sousse, Tunisia

2 Biology Molecular Laboratory University of Pharmacy, 5000 Monastir, Tunisia

3 Hereditary service of metabolic diseases and neonatal screening. Center of biology and pathology. 69677 BRON CEDEX, France

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Citation and License

Diagnostic Pathology 2011, 6:42  doi:10.1186/1746-1596-6-42

Published: 23 May 2011

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

Patients and 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.

Conclusion

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.