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

Peter L. Rady, J. M. Penzien, Trini Vargas, Stephen K. Tyring, Reuben Matalon

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)27-30
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume4
Issue number1
DOIs
StatePublished - Jan 2000

Keywords

  • Aspartoacylase gene
  • Canavan disease
  • Splice site mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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