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Open Access 01-12-2011 | Case Report

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

Authors: Latifa Chkioua, Souhir Khedhiri, Salima Ferchichi, Rémy Tcheng, Henda Chahed, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled

Published in: Diagnostic Pathology | Issue 1/2011

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.

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Title: Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
Authors: Latifa Chkioua
Souhir Khedhiri
Salima Ferchichi
Rémy Tcheng
Henda Chahed
Roseline Froissart
Christine Vianey-Saban
Sandrine Laradi
Abdelhedi Miled
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: Diagnostic Pathology / Issue 1/2011
Electronic ISSN: 1746-1596
DOI: https://doi.org/10.1186/1746-1596-6-42

At a glance: The STEP trials

Springer Medicine

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

Abstract

Patients and methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Patients and methods

Results

Conclusion

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