A Novel Mutation in Aspartoacylase Gene; Canavan Disease

Mahmoudreza Ashrafi; Alireza Tavasoli; Pegah Katibeh; Omid Aryani; Mohammad Vafaee-Shahi

A Novel Mutation in Aspartoacylase Gene; Canavan Disease

Iran J Child Neurol. 2015 Fall;9(4):54-7.

Authors

Mahmoudreza Ashrafi¹, Alireza Tavasoli¹, Pegah Katibeh¹, Omid Aryani², Mohammad Vafaee-Shahi¹

Affiliations

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 Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.

PMID: 26664442
PMCID: PMC4670978

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.

Keywords: ASPA gene; Aspartoacylase deficiency; Aspartoacylase enzyme; Canavan disease.

Publication types

Case Reports