A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease
Articles > Article · 2012
Authors: Mehmet Burak DURMAZ, Haluk AKIN, HÜSEYİN ONAY, Ali Vahabi, Feriştah Ferda ÖZKINAY
FETAL AND PEDIATRIC PATHOLOGY, Journal Indexed in SCI Expanded, International, 2012, vol 31, pp 236-239
DOI: 10.3109/15513815.2011.650292
Summary
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.