The spectrum of mutations of the aspartoacylase gene in Canavan disease innon-Jewish patients

Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase. It has mainly be en reported in Jewish families. Genotyping of newly diagnosed patients is e ssential for the carrier identification and prenatal diagnosis. The sequenc e of the coding region was determined in 15 non-Jewish patients and 9 new m utations were identified: Y109X, P183H, V186F, M195R, P280L, P280S, A287T, 245insA, and a tentative missplicing mutation which leads to skipping of ex on 5. The common pan-European mutation, A305E, was identified in 40% of the alleles and the overall detection rate was 93%.