Title: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Authors: Tao, Jiong ×
Van Esch, Hilde
Hagedorn-Greiwe, M
Hoffmann, Kirsten
Moser, Bettina
Raynaud, Martine
Sperner, Jürgen
Fryns, Jean-Pierre
Schwinger, Eberhard
Gécz, Jozef
Ropers, Hans-Hilger
Kalscheuer, Vera M #
Issue Date: Dec-2004
Series Title: American Journal of Human Genetics vol:75 issue:6 pages:1149-54
Abstract: Recently, we showed that truncation of the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene caused mental retardation and severe neurological symptoms in two female patients. Here, we report that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome. The mutations are located within the protein kinase domain and affect highly conserved amino acids; this strongly suggests that impaired CDKL5 catalytic activity plays an important role in the pathogenesis of this neurodevelopmental disorder. In view of the overlapping phenotypic spectrum of CDKL5 and MECP2 mutations, it is tempting to speculate that these two genes play a role in a common pathogenic process.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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