Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.
We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases.
Van Esch
Hilde
H
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium. Hilde.VanEsch@med.kuleuven.be
Jansen
Anna
A
Bauters
Marijke
M
Froyen
Guy
G
Fryns
Jean-Pierre
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000473:pathology
D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human