Nayerossadat Nouri1, Nargesossadat Nouri2, Omid Aryani3, Behnam Kamalidehghan4, Massoud Houshmand5. 1. Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran. 2. General Tohid Genetic Counseling Center, Isfahan, Iran. 3. Dept. of Genetic, Special Medical Center, Tehran, Iran. 4. Dept. of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia. 5. Dept. of Genetic, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
Abstract
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.
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-VIpatients with different phenotype severity. CONCLUSION: The mutation type in three patients was the same; probably, because of a foundation effect on their population.
Authors: M F G Petry; K Nonemacher; J C Sebben; I V D Schwartz; A C M Azevedo; M G Burin; A R de Rezende; C A Kim; R Giugliani; S Leistner-Segal Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982
Authors: C Peters; B Schmidt; W Rommerskirch; K Rupp; M Zühlsdorf; M Vingron; H E Meyer; R Pohlmann; K von Figura Journal: J Biol Chem Date: 1990-02-25 Impact factor: 5.157