We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Clinical Phenotype of 5 Females With a CDKL5 Mutation.
- Authors
Stalpers, Xenia L.; Spruijt, Liesbeth; Yntema, Helger G.; Verrips, Aad
- 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.
- Subjects
GENETIC mutation; PHENOTYPES; DISEASES in girls; RETT syndrome; INFANTILE spasms; TOMOGRAPHY; PATIENTS
- Publication
Journal of Child Neurology, 2012, Vol 27, Issue 1, p90
- ISSN
0883-0738
- Publication type
Case Study
- DOI
10.1177/0883073811413832