Publication: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
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Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub Jean-marc, Schaeffer-reiss Christine, Marcelis, C., Koolen, D. A., Pfundt, R., De Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A., … et al. (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation, 135(22), e182100. https://doi.org/10.1172/jci182100
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Polypyrimidine tract-binding protein PTBP1 is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear localization (NLS) and export (NES) signals. Despite its fundamental role in cell growth and differentiation, its involvement in human disease remains poorly understood. We identified 27 individuals from 25 families harboring de novo or inherited pathogenic variants - predominantly start-loss (89%) and, t
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Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub Jean-marc, Schaeffer-reiss Christine, Marcelis, C., Koolen, D. A., Pfundt, R., De Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A., … et al. (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation, 135(22), e182100. https://doi.org/10.1172/jci182100
