title: Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
abstract: The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. A total of 37 mutant genes have been analysed. The G-->A change destroying the splice donor site of exon 2 is generally associated with more severe disease and was found in 43.2% of mutant ASA genes. The C-->T transition causing a proline to leucine substitution at position 426 in exon 8 (P426-->L) is associated with later onset disease, and was found in 16.2% of mutant genes. The A-->G transition leading to loss of a polyadenylation signal associated with ASA pseudodeficiency was present at a frequency of 7.5% in the patients and heterozygotes studied.
authors.affiliation: Division of Medical and Molecular Genetics, UMDS-Guy's Campus, London, UK.
authors.forename: M L
authors.initials: ML
authors.lastname: Barth
authors.forename: A
authors.initials: A
authors.lastname: Fensom
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D000241:Adenosine; D000328:Adult; D000367:Age Factors; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002648:Child; D003596:Cytosine; D005091:Exons / Q000235:genetics; D006151:Guanosine; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015995:Prevalence; D013936:Thymidine; D006113:United Kingdom
chemical_list: D006151:Guanosine; D003596:Cytosine; D002553:Cerebroside-Sulfatase; D000241:Adenosine; D013936:Thymidine