Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Mefford, HC; Zemel, M; Geraghty, E; Cook, J; Clayton, PT; Paul, K; Plecko, B; Mills, PB; Nordli, DR; Gospe, SM.
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
NEUROLOGY. 2015; 85(9): 756-762.
Doi: 10.1212/WNL.0000000000001883
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- Co-Autor*innen der Med Uni Graz
- Paul Karl
- Plecko Barbara
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- Abstract:
- To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1. We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene. We performed array comparative genomic hybridization in 6 patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single detectable mutation in ALDH7A1 by sequence analysis. We found partial deletions of ALDH7A1 in 5 of 6 patients. Breakpoint analysis reveals that the deletions are likely a result of Alu-Alu recombination in all cases. The density of Alu elements within introns of ALDH7A1 suggests susceptibility to recurrent rearrangement. Patients with clinical pyridoxine-dependent epilepsy and a single identifiable mutation in ALDH7A1 warrant further investigation for copy number changes involving the ALHD7A1 gene. © 2015 American Academy of Neurology.
- Find related publications in this database (using NLM MeSH Indexing)
- Aldehyde Dehydrogenase - genetics
- Comparative Genomic Hybridization -
- Epilepsy - genetics
- Humans -
- Oligonucleotide Array Sequence Analysis - methods
- Sequence Deletion -