title: Clinical phenotype of 5 females with a CDKL5 mutation.
abstract: Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome since they lack the clear period of regression. Furthermore, in contrast to Rett syndrome, patients with CDKL5 mutations, have seizures or infantile spasms starting in the first weeks of life. We present clinical phenotype of 5 girls having a mutation in the CDKL5 gene. All mutations are novel and are pathogenic since they either lead to a frameshift in the reading frame or affect a consensus splice site. Four of the mutations are detected de novo in the affected girl.
authors.affiliation: Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. x.stalpers@cwz.nl
authors.forename: Xenia L
authors.initials: XL
authors.lastname: Stalpers
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Spruijt
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Aad
authors.initials: A
authors.lastname: Verrips
mesh_terms: D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012640:Seizures / Q000150:complications / Q000235:genetics; D055815:Young Adult
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human