A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

[canavan disease]

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 Y 88 X mutation was detected in the fetus . In this report , we present a novel mutation Y 88 X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease .