An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

J Hum Genet. 2011 Jan;56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2.


We report the identification of a novel exon, which is referred to as exon 16b, within the cyclin-dependent kinase (CDK)-like 5 (CDKL5) gene that is implicated in the X-linked infantile spasm syndrome and the early-onset seizure variant of Rett syndrome. Interestingly, it is highly conserved in species through evolution, suggesting a potential functional role, but does not display any homology with other referenced sequences. Most importantly, the transcript including this exon is specifically expressed in brain. We suggest that CDKL5 exon 16b should now be considered in the genetic screening of patients presenting with a CDKL5-related disease profile.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / metabolism*
  • Brain Diseases / genetics*
  • Brain Diseases / metabolism
  • COS Cells
  • Chlorocebus aethiops
  • Conserved Sequence / genetics
  • Exons / genetics
  • Female
  • Genetic Testing / methods
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Organ Specificity / genetics
  • Protein Isoforms / genetics
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / metabolism
  • Severity of Illness Index


  • Protein Isoforms
  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human