title: A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.
abstract: Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features. The patient showed generalized tonic seizures, and later, massive myoclonus induced by phone and light stimuli. Brain magnetic resonance imaging showed no structural brain anomalies but cerebral atrophy. Electroencephalogram showed frontal dominant diffuse poly spikes and waves. Through copy number analysis by genomic microarray, we found a microdeletion at Xp22.13. A de novo 137-kb deletion, involving exons 5-21 of CDKL5, RS1, and part of PPEF1 gene, was confirmed by quantitative PCR and breakpoint specific PCR analyses. Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. hsaitsu@yokohama-cu.ac.jp
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D002648:Child; D004660:Encephalitis / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human