Background
Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait,
Conclusion
The mutation type in three patients was the same; probably, because of a foundation effect on their population.
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.