A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report
| Autor: | Mostafa Neissi, Motahareh Sheikh-Hosseini, Javad Mohammadi-Asl |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | International Journal of Biomedicine, Vol 11, Iss 4, Pp 594-597 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2158-0510 2158-0529 |
| DOI: | 10.21103/Article11(4)_CR2 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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