title: 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.
abstract: 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-->caaG: designated IVS 4(-I) G-->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-->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.
authors.affiliation: Department of Pediatrics, Gifu University, School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: A M
authors.initials: AM
authors.lastname: Montaño
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: V
authors.initials: V
authors.lastname: Muller
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000346:Afghanistan; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D005260:Female; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human