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We report here a novel splice site mutation in intron 4 of the gene for N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in an Afghanistan girl with severe mucopolysaccharidosis IVA (classical Morquio disease). Direct sequencing revealed a homozygous G to A transition in the conserved splice acceptor site in intron 4 (cagG--&gt;caaG: designated IVS 4(-I) G--&gt;A) which eliminates 144 nucleotides of exon 5 in her GALNS transcript and introduces an immediate premature termination codon (at Trp 141 of exon 4). The IVS 4(-1) G--&gt;A has not been seen in other populations and this is the first report of the molecular basis of classical Morquio disease in an Afghanistan patient.

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Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of theN-acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease