MUCOPOLYSACCHARIDOSIS-IVA - A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON-4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO-DISEASE

We report here a novel splice site mutation in intron 4 of the gene fo r 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 con served splice acceptor site in intron 4 (cagG-->caaG: designated IVS 4 (-1) G-->A) which eliminates 144 nucleotides of exon 5 in her GALNS tr anscript and introduces an immediate premature termination codon (at T rp 141 of exon 4). The IVS 4(-1) G-->A has not been seen in other popu lations and this is the first report of the molecular basis of classic al Morquio disease in an Afghanistan patient.