title: A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
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.
authors.affiliation: Pediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
authors.forename: Mahmoudreza
authors.initials: M
authors.lastname: Ashrafi
authors.affiliation: Pediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Tavasoli
authors.affiliation: Pediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
authors.forename: Pegah
authors.initials: P
authors.lastname: Katibeh
authors.affiliation: Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.affiliation: Pediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Vafaee-Shahi
keywords: ASPA gene; Aspartoacylase deficiency; Aspartoacylase enzyme; Canavan disease