Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia |
| |
| Authors: | Namik Kaya Dilek Colak Albandary Al-Bakheet Banan Al-Younes Sahar Tulbah Maha Daghestani Fuad Al-Mutairi Mohammed Al-Amoudi Ali Al-Odaib Aida I. Al-Aqeel |
| |
| Affiliation: | 1. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Saudi Arabia;2. Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Saudi Arabia;3. College of Science, King Saud University, Saudi Arabia;4. Department of Pediatrics, Riyadh Military Hospital, Saudi Arabia;5. Stem Cell Therapy Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia;6. American University of Beirut, Lebanon |
| |
| Abstract: | 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. |
| |
| Keywords: | IVD, Isovaleryl-CoA dehydrogenase IV, Isovaleryl-CoA dehydrogenase gene IVA, Isovaleric academia MS, Mass spectrometry, tandem mass spectrometry NBSPs, Newborn screening programs GCMS, Gas chromatography&ndash mass spectrometry MRI, Magnetic resonance imaging BAER, Brain stem auditory evoked response VER, Visual evoked response EEG, Electroencephalogram SCOP, Structural classification of proteins system UCSC, University of California, Santa Cruz DBS, Dried blood spots KSA, Kingdom of Saudi Arabia Kpa, kilopascal IQ, Intelligence quotient |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
