, Volume 12, Issue 2, pp 165-167
Date: 12 Feb 2011

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

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Letter to the editor

Mutations in CDKL5, which encodes cyclin dependent kinase-like 5, cause a form of severe infantile epileptic encephalopathy (EIEE2, OMIM 300672) predominantly in girls [13]. The clinical consequences of CDKL5 mutations characteristically comprise infantile spasms, early-onset seizures, and severe mental retardation. Clinically, there is some overlap with Rett syndrome (RTT, OMIM 312750), and female patients with CDKL5 mutations are often considered as suffering from atypical RTT or the Hanefeld variant of RTT. Other genes associated with atypical RTT are FOXG1, MEF2C, and NTNG1 [4]. To date, about 80 patients have been reported with CDKL5 mutations. The distribution of mutations over most of the presently known coding exons indicates that there are no mutational hot-spots. The function of CDKL5/Cdkl5 is largely unexplored. Its gene product interacts with MeCP2, which is mutated in over 90% of patients with classic RTT. More recent studies have shown that CDKL5 cont ...