Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Eur J Paediatr Neurol. 2000;4(1):27-30. doi: 10.1053/ejpn.1999.0256.


Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy. Canavan disease occurs more frequently among Ashkenazi Jewish individuals with two predominant mutations in the aspartoacylase (ASPA) gene. The disease is less frequent in non-Jewish individuals and the mutations randomly reside on the ASPA gene, with one mutation seen more frequently among patients of European extraction. In the present study we report a novel homozygous donor splice site mutation of intron 4 in a child with first-cousin parents of Turkish extraction.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amidohydrolases / genetics*
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Canavan Disease / diagnosis
  • Canavan Disease / genetics*
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Consanguinity
  • Exons
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Introns / genetics
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • RNA Splicing / genetics*
  • Sequence Analysis, DNA


  • Aspartic Acid
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase