Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1
| Autor: | Gajja S. Salomons, Cornelis Jakobs, Ana Pop, Aline Cano, Warsha A. Kanhai, Brigitte Chabrol, Mathieu Milh, Eduard A. Struys, Nathalie Villeneuve |
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| Přispěvatelé: | Clinical chemistry, Human genetics, NCA - Childhood White Matter Diseases |
| Rok vydání: | 2012 |
| Předmět: |
Male
RNA Splicing Endocrinology Diabetes and Metabolism Biology medicine.disease_cause Biochemistry Genetic analysis Epilepsy Endocrinology Genetics medicine Intronic Mutation Humans splice Genetic Testing Molecular Biology Pyridoxine-dependent epilepsy Genetic testing Mutation medicine.diagnostic_test Siblings Homozygote Infant Newborn Aldehyde Dehydrogenase medicine.disease Molecular biology Introns Open reading frame Female |
| Zdroj: | Milh, M, Pop, A, Kanhai, W, Villeneuve, N, Cano, A, Struijs, E A, Salomons, G S, Chabrol, B & Jakobs, C A J M 2012, ' Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1 ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 684-686 . https://doi.org/10.1016/j.ymgme.2012.01.011 Molecular Genetics and Metabolism, 105(4), 684-686. Academic Press Inc. |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2012.01.011 |
| Popis: | We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a pseudoexon, and the minor transcript representing the authentic spliced transcript. In future, this mutation may be targeted with antisense-therapy aiming at exclusion of the pseudoexon. |
| Databáze: | OpenAIRE |
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