The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
- 1 August 1994
- journal article
- Vol. 55 (2) , 287-8
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.This publication has 7 references indexed in Scilit:
- Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan diseaseNature Genetics, 1993
- Protracted Clinical Course for Patientsd with Canavan DiseaseDevelopmental Medicine and Child Neurology, 1993
- Gaucher disease: gene frequencies in the Ashkenazi Jewish population.1993
- Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.1992
- N‐Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophyJournal of Inherited Metabolic Disease, 1988
- Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with canavan diseaseAmerican Journal of Medical Genetics, 1988
- Spongy degeneration of the brain in Israel: A retrospective studyClinical Genetics, 1983