ArticleBMC medical genetics2012
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.Human mutation · 2022Article
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Frontiers in cellular neuroscience · 2016Review
- Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.BMC medical genetics · 2014Article
- The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy.Epilepsy research and treatment · 2014Article
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.
methodsWe performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA).
resultsSix previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life.
conclusionsThis study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.
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