title: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
abstract: Canavan disease is a severe progressive autosomal recessive disorder, which is characterised by spongy degeneration of the brain. The disease is caused by mutations in the aspartoacylase gene. Two different mutations were reported on 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent. In non-Jewish patients of European origin, one mutation (914C > A) is found in 50% of the alleles, the other alleles representing all kinds of different mutations. We here describe the results of the mutation analysis in 17 European, non-Jewish patients. Ten different mutations were found, of which four had not been described before (H21P, A57T, R168H, P181T). A deletion of exon4, which until now had only been described once, was revealed in all five alleles of Turkish origin tested, indicating that this is a founder effect in the Turkish population.
authors.affiliation: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands. E.Sistermans@antrg.azn.nl
authors.forename: E A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: R F
authors.initials: RF
authors.lastname: de Coo
authors.forename: H M
authors.initials: HM
authors.lastname: van Beerendonk
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D001483:Base Sequence; D017825:Canavan Disease / Q000201:enzymology* / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005006:Ethnicity / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007585:Jews; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011296:Prenatal Diagnosis / Q000379:methods; D014421:Turkey / Q000453:epidemiology
chemical_list: D017931:DNA Primers; D000581:Amidohydrolases; C019751:aspartoacylase