TY - JOUR T1 - Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity TT - شناسایی یک موتاسیون در ژن بی-آریل سولفاتاز در سه بیمار ایرانی مبتلا موکوپلی ساکاریدوز نوع شش JF - انستیتو-پاستور-ایران JO - انستیتو-پاستور-ایران VL - 16 IS - 3 UR - http://ibj.pasteur.ac.ir/article-1-708-en.html Y1 - 2012 SP - 171 EP - 169 KW - Mucopolysaccharidosis type-VI (MPS-VI) KW - Mutation KW - Iran N2 - Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Methods: After PCR and direct DNA sequencing, DNA extraction was performed. Results: Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A>G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. Conclusion: The mutation type in three patients was the same probably, because of a foundation effect on their population. M3 10.6091/ibj.1049.2012 ER -