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A Novel Mutation in Aspartoacylase Gene; Canavan Disease



Ashrafi M1 ; Tavasoli A1 ; Katibeh P1 ; Aryani O2 ; Vafaeeshahi M1
Authors
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Authors Affiliations
  1. 1. Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran
  2. 2. Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

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.