A Novel Mutation in Aspartoacylase Gene; Canavan Disease
نویسندگان
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 1. Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran
3 1. Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran
4 1. Pediatric Neurology Division, Growth and Development Research Center, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran
5 2. Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
doi
10.22037/ijcn.v9i4.8075چکیده
How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.AbstractObjectiveCanavan 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.
