Journal
NEUROGENETICS
Volume 10, Issue 4, Pages 363-369Publisher
SPRINGER
DOI: 10.1007/s10048-009-0195-z
Keywords
Infantile spasms; CDKL5; Alu-mediated deletions; Xp22.13 region
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Funding
- Doris Duke Clinical Scientist Development Award
- Gillson Longenbaugh Foundation (SRL)
- NUCDF foundation
- NIH/NIGMS T32
- Polish Ministry of Science and Higher Education [R13-0005-04/2008]
- [GM07526]
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Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a Rett syndrome (RTT)-like phenotype. Using array comparative genomic hybridization, we identified variable-sized microdeletions involving exons 1-4 of the CDKL5 gene in three females with early-onset seizures. Two of these deletions were flanked by Alu repetitive elements and may have resulted from either non-allelic homologous recombination or the microhomology-mediated Fork Stalling and Template Switching/Microhomology-Mediated Break-Induced Replication mechanism. Our findings demonstrate the first instance of genomic deletion as the molecular basis of CDKL5 deficiency in females and highlight the importance of exon targeted array-CGH analysis for this gene in females with drug-resistant early-onset seizures.
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