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 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.
Fukuda
S
S
Department of Pediatrics, Gifu University, School of Medicine, Japan.
Yamada
N
N
Tomatsu
S
S
Sukegawa
K
K
Montaño
A M
AM
Hopwood
J J
JJ
Muller
V
V
Orii
T
T
Kondo
N
N
D000346:Afghanistan; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D005260:Female; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
D002811:Chondroitinsulfatases; C102295:GALNS protein, human