A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report

CASE REPORT
Mostafa Neissi, Motahareh Sheikh-Hosseini, Javad Mohammadi-Asl

 
International Journal of Biomedicine. 2021;11(4):594-597.
DOI: 10.21103/Article11(4)_CR2
Originally published December 10, 2021
Published without substantive editing per OFAC guidance.

Abstract: 

Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted in a catalytic deficiency of the ASPA enzyme that catalyzes the hydrolysis of NAA into aspartate and acetate. Herein, we report an Iranian patient diagnosed with Canavan disease with a novel splice-site mutation in the ASPA gene (NM_000049.4; c.432+1 G>C). This report is based on a homozygous c.432+1 G>C mutation in the ASPA gene identified from an Iranian patient. As a result, a novel homozygous pathogenic mutation on ASPA is the cause of disease in the patient.

Keywords: 
Canavan disease • novel mutation • ASPA gene • aspartoacylase • N-acetylaspartic acid
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Received September 16, 2021.
Accepted October 5, 2021.
©2021 International Medical Research and Development Corporation.