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A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy
- Source :
- Vrije Universiteit Brussel
- Publication Year :
- 1996
-
Abstract
- Metachromatic leukodystrophy (MLD) is an autosomal recessive disease of myelin metabolism caused by a deficiency in the lysosomal enzyme arylsulphatase A (ARSA). We have identified a new mutation in exon 4 of the ARSA gene of two unrelated Belgian patients with late-infantile MLD. The mutation predicts an aspartic acid-to-histidine substitution at position 255 in arylsulphatase A (D255H), in a highly conserved region among sulphatases. Transient expression of the mutation in COS cells did not show an increase in ARSA activity. Both patients were compound heterozygotes carrying the frequent splice site mutation in intron 2 (459 + IG -->A) on the other allele.
- Subjects :
- Genetics
Male
leukodystrophy
Mutation
Splice site mutation
Leukodystrophy
Intron
Leukodystrophy, Metachromatic
Biology
arylsulphatase A
medicine.disease_cause
Compound heterozygosity
medicine.disease
metachromatic leukodystrophy
Metachromatic leukodystrophy
Exon
COS Cells
medicine
Animals
Humans
Allele
Genetics (clinical)
Cerebroside-Sulfatase
Subjects
Details
- ISSN :
- 01418955
- Volume :
- 19
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Journal of inherited metabolic disease
- Accession number :
- edsair.doi.dedup.....4e9f8f606a1eec4bb575c9053d00d9e2