A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease

作者：Durmaz Asude Alpman^*; Akin Haluk; Onay Huseyin; Vahabi Ali; Ozkinay Ferda

来源：Fetal and Pediatric Pathology, 2012, 31(4): 236-239.

DOI：10.3109/15513815.2011.650292

• aspartoacylase (ASPA) gene
• canavan
• novel mutation

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.

• 出版日期2012