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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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.
2018 ◽
Vol 45
(5)
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pp. 613-617
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2014 ◽
Vol 22
(3)
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pp. 182-185
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