title: A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
abstract: Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease. In the presented family sequencing analysis for the aspartoacylase gene was performed on the blood samples of the parents as the affected child had died due to Canavan disease. After the mutation was detected, prenatal diagnosis was also performed and heterozygous Y88X mutation was detected in the fetus. In this report, we present a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.
authors.affiliation: Ege University Medical Faculty, Department of Medical Genetics, Bornova, Izmir, Turkey. asude.alpman@ege.edu.tr
authors.forename: Asude Alpman
authors.initials: AA
authors.lastname: Durmaz
authors.forename: Haluk
authors.initials: H
authors.lastname: Akin
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Ali
authors.initials: A
authors.lastname: Vahabi
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D017825:Canavan Disease / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010290:Parents; D011296:Prenatal Diagnosis
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase