A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
A T > C transition (L428P) was detected in the arylsulfatase A alleles of a late infantile metachromatic leukodystrophy patient. The mutation causes a Leu > Pro substitution in exon 8. It lies in a region conserved among arylsulfatases. The mutation was not detected in 37 other patients and in 57 normal controls.
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Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
Filocamo
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Stroppiano
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Corsolini
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F
Gatti
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R
D000595:Amino Acid Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005796:Genes / Q000235:genetics; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
D002553:Cerebroside-Sulfatase