title: Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
abstract: Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy. Canavan disease occurs more frequently among Ashkenazi Jewish individuals with two predominant mutations in the aspartoacylase (ASPA) gene. The disease is less frequent in non-Jewish individuals and the mutations randomly reside on the ASPA gene, with one mutation seen more frequently among patients of European extraction. In the present study we report a novel homozygous donor splice site mutation of intron 4 in a child with first-cousin parents of Turkish extraction.
authors.affiliation: Department of Pediatrics, University of Texas Medical Branch, Galveston, USA.
authors.forename: P L
authors.initials: PL
authors.lastname: Rady
authors.forename: J M
authors.initials: JM
authors.lastname: Penzien
authors.forename: T
authors.initials: T
authors.lastname: Vargas
authors.forename: S K
authors.initials: SK
authors.lastname: Tyring
authors.forename: R
authors.initials: R
authors.lastname: Matalon
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase