A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report
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Published:2021-12-10
Issue:4
Volume:11
Page:594-597
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ISSN:2158-0510
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Container-title:International Journal of Biomedicine
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language:
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Short-container-title:IJBM
Author:
Neissi Mostafa,Sheikh-Hosseini Motahareh,Mohammadi-Asl Javad
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.
Publisher
International Medical Research and Development Corporation
Subject
General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Neuroscience