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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2009-10-1
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pubmed:abstractText |
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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1364-6753
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pubmed:author |
pubmed-author:BhattSamarth SSS,
pubmed-author:CheungSau WaiSW,
pubmed-author:CraigenWilliamW,
pubmed-author:DavenportSandra L HSL,
pubmed-author:ErezAyeletA,
pubmed-author:FangPingP,
pubmed-author:LalaniSeema RSR,
pubmed-author:LewisRichard ARA,
pubmed-author:PatelAmina JAJ,
pubmed-author:StankiewiczPawelP,
pubmed-author:WangXueqingX,
pubmed-author:XiaZhilianZ
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
363-9
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pubmed:meshHeading |
pubmed-meshheading:19471977-Abnormalities, Multiple,
pubmed-meshheading:19471977-Age of Onset,
pubmed-meshheading:19471977-Amino Acid Sequence,
pubmed-meshheading:19471977-Base Sequence,
pubmed-meshheading:19471977-Child, Preschool,
pubmed-meshheading:19471977-Comparative Genomic Hybridization,
pubmed-meshheading:19471977-DNA Mutational Analysis,
pubmed-meshheading:19471977-Female,
pubmed-meshheading:19471977-Humans,
pubmed-meshheading:19471977-In Situ Hybridization, Fluorescence,
pubmed-meshheading:19471977-Infant,
pubmed-meshheading:19471977-Male,
pubmed-meshheading:19471977-Molecular Sequence Data,
pubmed-meshheading:19471977-Phenotype,
pubmed-meshheading:19471977-Protein-Serine-Threonine Kinases,
pubmed-meshheading:19471977-Rett Syndrome,
pubmed-meshheading:19471977-Seizures,
pubmed-meshheading:19471977-Sequence Deletion,
pubmed-meshheading:19471977-X Chromosome Inactivation,
pubmed-meshheading:19471977-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
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pubmed:affiliation |
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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