THE FREQUENCY OF THE C854 MUTATION IN THE ASPARTOACYLASE GENE IN ASHKENAZI JEWS IN ISRAEL

Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been repo rted in Ashkenazi Jewish families. The primary enzymatic defect is asp artoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD a nd 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutati on. Al 18 patients were homozygotes for the mutation, and 15 heterozyg otes were found among the healthy individuals. The results disclose a carrier rate of 1:59 and suggest that a screening for the mutation is warranted among Ashkenazi Jewish couples.