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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 acid 382 (E382K). A juvenile MLD patients 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.

Original publication

DOI

10.1093/hmg/2.12.2117

Type

Journal article

Journal

Hum Mol Genet

Publication Date

12/1993

Volume

2

Pages

2117 - 2121

Keywords

Adult, Amino Acid Sequence, Base Sequence, Cerebroside-Sulfatase, Child, DNA Primers, Exons, Glutamates, Glutamic Acid, Homozygote, Humans, Infant, Leukodystrophy, Metachromatic, Lysine, Molecular Sequence Data, Point Mutation, Polymerase Chain Reaction, Polymorphism, Genetic