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|Title:||Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation|
Van Esch, H.
|Citation:||American Journal of Human Genetics, 2004; 75(6):1149-1154|
|Publisher:||Univ Chicago Press|
|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.|
|Keywords:||Chromosomes, Human, X; Humans; Spasms, Infantile; Heredodegenerative Disorders, Nervous System; Protein-Serine-Threonine Kinases; DNA-Binding Proteins; Chromosomal Proteins, Non-Histone; Repressor Proteins; Chromatography, High Pressure Liquid; Pedigree; Sequence Alignment; Amino Acid Sequence; Base Sequence; Mutation, Missense; Molecular Sequence Data; Infant; Methyl-CpG-Binding Protein 2|
|Appears in Collections:||Paediatrics publications|
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