Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Lisa PavinatoMarina Villamor-PayàMaria Sanchiz-CalvoCristina AndreoliMarina GayMarta VilasecaGianluca Arauz-GarofaloAndrea CiolfiAlessandro BrusellesTommaso PippucciValentina ProtaDiana CarliElisa GiorgioFrancesca Clementina RadioVincenzo AntonaMario GiuffrèKara RanguinCindy ColsonSilvia De RubeisPaola DimartinoJoseph D BuxbaumGiovanni Battista FerreroMarco TartagliaSimone MartinelliTravis H StrackerAlfredo BruscoPublished in: Journal of medical genetics (2020)
Our study identified novel TLK2 pathogenic variants, confirming and further expanding the MRD57-related phenotype. The molecular characterisation of missense variants increases our knowledge about TLK2 function and provides new insights into its role in neurodevelopmental disorders.