title: Canavan disease: a novel mutation.
abstract: Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.
authors: Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria. harald.schober@lkhf.at
authors: Harald
authors: H
authors: Schober
authors: Juerg
authors: J
authors: Luetschg
authors: Isabella
authors: I
authors: Hoeliner
authors: Stefanie
authors: S
authors: Kalb
authors: Burkhard
authors: B
authors: Simma
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D017825:Canavan Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase