The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase. It has mainly been reported in Jewish families. Genotyping of newly diagnosed patients is essential for the carrier identification and prenatal diagnosis. The sequence of the coding region was determined in 15 non-Jewish patients and 9 new mutations were identified: Y109X, P183H, V186F, M195R, P280L, P280S, A287T, 245insA, and a tentative missplicing mutation which leads to skipping of exon 5. The common pan-European mutation, A305E, was identified in 40% of the alleles and the overall detection rate was 93%.
Elpeleg
O N
ON
Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
Shaag
A
A
D000581:Amidohydrolases / Q000172:deficiency / Q000235:genetics*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000652:urine; D017825:Canavan Disease / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007585:Jews; D009154:Mutation
D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase