The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel

Orly N. Elpeleg, Yair Anikster, Varda Barash, David Branski, Avraham Shaag

Research output: Contribution to journalArticlepeer-review

Abstract

Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been reported in Ashkenazi Jewish families. The primary enzymatic defect is aspartoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD and 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutation. All 18 patients were homozygotes for the mutation, and 15 heterozygotes 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.

Original languageEnglish
Pages (from-to)287-288
Number of pages2
JournalAmerican Journal of Human Genetics
Volume55
Issue number2
StatePublished - 1994
Externally publishedYes

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