4.1 Article

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

期刊

NEUROGENETICS
卷 10, 期 4, 页码 363-369

出版社

SPRINGER
DOI: 10.1007/s10048-009-0195-z

关键词

Infantile spasms; CDKL5; Alu-mediated deletions; Xp22.13 region

资金

  1. Doris Duke Clinical Scientist Development Award
  2. Gillson Longenbaugh Foundation (SRL)
  3. NUCDF foundation
  4. NIH/NIGMS T32
  5. Polish Ministry of Science and Higher Education [R13-0005-04/2008]
  6. [GM07526]

向作者/读者索取更多资源

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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