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© 1993 Oxford University Press

RESEARCH-ARTICLE

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients

Maria Lulza Barth, Anthony Fensom and Ann Harris1,*

Division of Medical and Molecular Genetics, UMDS-Guy's Campus, London SE1 9RT, UK 1Paediatric Molecular Genetics, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK

*To whom correspondence should be addressed

Received September 9, 1993; Revised September 30, 1993; Accepted September 30, 1993

Novel predicted disease-causing mutations have been defined in three patients with metachromatic leukodystrophy (MLD). The first new mutation is a C—A change at base 884 in exon 5 of the arylsulphatase A (ASA) gene causing a serine to tyrosine substitution at position 295 of the protein (S295Y). A late-infantile MLD patient was found to be homozygous for this mutation. The second mutation is a G<-A substitution at nucleotide 1144 in exon 7, that causes a glutamic acid to lysine substitution at amino acids 382 (E382K). A Juvenile MLD patient was found to be homozygous for this mutation. Finally an adult MLD patient has been shown to be heterozygous for two novel point mutations in exon 3. These are both C<- T changes at position 635 and 671 that result in alanine to valine substitutions at amino acids 212 (A212V) and 224 (A224V) of the ASA protein.


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