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A Novel Mutation in Aspartoacylase Gene; Canavan Disease



Ashrafi M1 ; Tavasoli A1 ; Katibeh P1 ; Aryani O2 ; Vafaeeshahi M1
Authors

Source: Iranian Journal of Child Neurology Published:2015

Abstract

Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature. © 2015, Iranian Child Neurology Society. All rights reserved.
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