Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.

نویسندگان

  • Nayerossadat Nouri
  • Nargesossadat Nouri
  • Omid Aryani
  • Behnam Kamalidehghan
  • Massoud Houshmand
چکیده

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.

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منابع مشابه

Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity

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. Method...

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عنوان ژورنال:
  • Iranian biomedical journal

دوره 16 3  شماره 

صفحات  -

تاریخ انتشار 2012