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.
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Selected References
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- Abeliovich D., Lavon I. P., Lerer I., Cohen T., Springer C., Avital A., Cutting G. R. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992 Nov;51(5):951–956. [PMC free article] [PubMed] [Google Scholar]
- Beutler E., Nguyen N. J., Henneberger M. W., Smolec J. M., McPherson R. A., West C., Gelbart T. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993 Jan;52(1):85–88. [PMC free article] [PubMed] [Google Scholar]
- Divry P., Vianey-Liaud C., Gay C., Macabeo V., Rapin F., Echenne B. N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherit Metab Dis. 1988;11(3):307–308. doi: 10.1007/BF01800378. [DOI] [PubMed] [Google Scholar]
- Kaul R., Gao G. P., Balamurugan K., Matalon R. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet. 1993 Oct;5(2):118–123. doi: 10.1038/ng1093-118. [DOI] [PubMed] [Google Scholar]
- Matalon R., Michals K., Sebesta D., Deanching M., Gashkoff P., Casanova J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet. 1988 Feb;29(2):463–471. doi: 10.1002/ajmg.1320290234. [DOI] [PubMed] [Google Scholar]
- Ungar M., Goodman R. M. Spongy degeneration of the brain in Israel: a retrospective study. Clin Genet. 1983 Jan;23(1):23–29. doi: 10.1111/j.1399-0004.1983.tb00432.x. [DOI] [PubMed] [Google Scholar]
- Zelnik N., Luder A. S., Elpeleg O. N., Gross-Tsur V., Amir N., Hemli J. A., Fattal A., Harel S. Protracted clinical course for patients with Canavan disease. Dev Med Child Neurol. 1993 Apr;35(4):355–358. doi: 10.1111/j.1469-8749.1993.tb11649.x. [DOI] [PubMed] [Google Scholar]