Abstract:
OBJECTIVE: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. METHODS: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. RESULTS: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. CONCLUSION:Patients with clinical pyridoxine-dependent epilepsy and a single identifiable mutation in ALDH7A1 warrant further investigation for copy number changes involving the ALHD7A1 gene.
journal_name
Neurologyjournal_title
Neurologyauthors
Mefford HC,Zemel M,Geraghty E,Cook J,Clayton PT,Paul K,Plecko B,Mills PB,Nordli DR Jr,Gospe SM Jrdoi
10.1212/WNL.0000000000001883subject
Has Abstractpub_date
2015-09-01 00:00:00pages
756-62issue
9eissn
0028-3878issn
1526-632Xpii
WNL.0000000000001883journal_volume
85pub_type
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