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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B
Serap Emre1, Mugen Terzioglu, Aysegul Tokatli
1Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey. mugen@hacettepe.edu.tr
Abstract:
Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with sulfamidase (SGSH) being deficient in MPS IIIA and a-N-acetylglucosaminidase (NAGLU) deficient in MPS IIIB. Mutation screening using SSCP/heteroduplex analysis on genomic DNA fragments was performed in five Turkish MPS IIIA and eight Turkish MPS IIIB patients. In this study two mutations of SGSH were identified in MPS IIIA patients: R74C and the novel mutation P288S, and one polymorphism (IVS1+23 C>G). Five different mutations of NAGLU were identified in MPS IIIB patients: L682R, H248R, E153K, g.17703 A>G (novel), and T437I (novel). The clinical data of all patients are reported in detail. A high degree of genetic heterogeneity was observed in the Turkish MPS IIIA and MPS IIIB patients.
Insights
Sanfilippo syndrome (MPS III) genetic research in Turkish patients identified novel mutations in SGSH and NAGLU enzymes. This study highlights significant genetic heterogeneity in Mucopolysaccharidosis type III subtypes.
Area of Science:
- Genetics
- Biochemistry
- Rare Diseases
Background:
- Sanfilippo syndrome (MPS III) is a progressive neurodegenerative disorder.
- It stems from deficiencies in heparan sulfate degradation enzymes.
- MPS IIIA involves sulfamidase (SGSH) deficiency; MPS IIIB involves alpha-N-acetylglucosaminidase (NAGLU) deficiency.
Purpose of the Study:
- To screen for mutations in SGSH and NAGLU genes in Turkish MPS III patients.
- To identify novel mutations and characterize genetic heterogeneity.
Main Methods:
- Mutation screening using Single-Strand Conformation Polymorphism (SSCP)/heteroduplex analysis.
- Genomic DNA analysis of five MPS IIIA and eight MPS IIIB patients.
Main Results:
- Two SGSH mutations (R74C, P288S) and one polymorphism (IVS1+23 C>G) found in MPS IIIA patients.
- Five NAGLU mutations (L682R, H248R, E153K, g.17703 A>G, T437I) identified in MPS IIIB patients.
- Two novel mutations in SGSH and NAGLU were discovered.
Conclusions:
- Significant genetic heterogeneity exists in Turkish MPS IIIA and MPS IIIB populations.
- Identification of novel mutations expands the known mutation spectrum for these Sanfilippo syndrome subtypes.
