A Novel Mutation in Aspartoacylase Gene; Canavan Disease

A Novel Mutation in Aspartoacylase Gene; Canavan Disease

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

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.

2. Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort and Report of Five Common Diseases and 38 Novel Variants, Scientific Reports (2021)

3. Neurofibromatosis-Noonan Syndrome and Growth Deficiency in an Iranian Girl Due to a Pathogenic Variant in Nf1 Gene, Human Genomics (2023)

Experts (# of related papers)

Mahmoudreza Ashrafi (1)

Ali Reza Tavasoli (1)

Style	Citing Format
MLA	Ashrafi M, et al.. "A Novel Mutation in Aspartoacylase Gene; Canavan Disease." Iranian Journal of Child Neurology, vol. 9, no. 4, 2015, pp. 54-57.
APA	Ashrafi M, Tavasoli A, Katibeh P, Aryani O, Vafaeeshahi M (2015). A Novel Mutation in Aspartoacylase Gene; Canavan Disease. Iranian Journal of Child Neurology, 9(4), 54-57.
Chicago	Ashrafi M, Tavasoli A, Katibeh P, Aryani O, Vafaeeshahi M. "A Novel Mutation in Aspartoacylase Gene; Canavan Disease." Iranian Journal of Child Neurology 9, no. 4 (2015): 54-57.
Harvard	Ashrafi M et al. (2015) 'A Novel Mutation in Aspartoacylase Gene; Canavan Disease', Iranian Journal of Child Neurology, 9(4), pp. 54-57.
Vancouver	Ashrafi M, Tavasoli A, Katibeh P, Aryani O, Vafaeeshahi M. A Novel Mutation in Aspartoacylase Gene; Canavan Disease. Iranian Journal of Child Neurology. 2015;9(4):54-57.
BibTex	@article{ author = {Ashrafi M and Tavasoli A and Katibeh P and Aryani O and Vafaeeshahi M}, title = {A Novel Mutation in Aspartoacylase Gene; Canavan Disease}, journal = {Iranian Journal of Child Neurology}, volume = {9}, number = {4}, pages = {54-57}, year = {2015} }
RIS	TY - JOUR AU - Ashrafi M AU - Tavasoli A AU - Katibeh P AU - Aryani O AU - Vafaeeshahi M TI - A Novel Mutation in Aspartoacylase Gene; Canavan Disease JO - Iranian Journal of Child Neurology VL - 9 IS - 4 SP - 54 EP - 57 PY - 2015 ER -

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