Missense mutations in the arylsulphatase a genes of metachromatic leukodystrophy patients

Maria Lulza Barth, Anthony Fensom, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2117-2121
Number of pages5
JournalHuman molecular genetics
Volume2
Issue number12
DOIs
StatePublished - Dec 1993

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Missense mutations in the arylsulphatase a genes of metachromatic leukodystrophy patients'. Together they form a unique fingerprint.

Cite this