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  Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., et al. (2004). Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American Journal of Human Genetics, 75(6), 1149-1154.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am. J. Hum. Genet.

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 Urheber:
Tao, Jiong1, Autor
Van Esch, Hilde, Autor
Hagedorn-Greiwe, M., Autor
Hoffmann, Kirsten1, Autor
Moser, Bettina1, Autor
Raynaud, Martine, Autor
Sperner, Jürgen, Autor
Fryns, Jean-Pierre, Autor
Schwinger, Eberhard, Autor
Gécz, Jozef, Autor
Ropers, Hans-Hilger2, Autor           
Kalscheuer, Vera M.3, Autor           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Zusammenfassung: 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.

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Sprache(n): eng - English
 Datum: 2004-10-21
 Publikationsstatus: Erschienen
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 Ort, Verlag, Ausgabe: -
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 Identifikatoren: eDoc: 225647
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Titel: American Journal of Human Genetics
  Alternativer Titel : Am. J. Hum. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 75 (6) Artikelnummer: - Start- / Endseite: 1149 - 1154 Identifikator: ISSN: 0002-9297