Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia
| Autor: | Aida I. Al-Aqeel, Fuad Al-Mutairi, Banan Al-Younes, Sahar Tulbah, Maha H. Daghestani, Ali Al-Odaib, Dilek Colak, Namik Kaya, Mohammed S. Al-Amoudi, Albandary Al-Bakheet |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Genetics education.field_of_study Adolescent Isovaleryl-CoA Dehydrogenase Consanguineous family Population General Medicine Disease Biology Isovaleric Acidemia Arabs Consanguinity Prediction algorithms Mutation Mutation (genetic algorithm) Humans Female sense organs Transversion education Amino Acid Metabolism Inborn Errors |
| Zdroj: | Gene. 513:297-300 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2012.09.097 |
| Popis: | Isovaleric acidemia (IVA) is a rare autosomal recessive disorder caused by a deficiency of isovaleryl-CoA dehydrogenase encoded by IVD gene. In this case study we report the first Saudi IVA patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype–genotype correlation of the disease in the Saudi population. We explored the functional consequences of the mutation by using various bioinformatics prediction algorithms and discussed the likely mechanism of the disease caused by the mutation. |
| Databáze: | OpenAIRE |
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