Article
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.
EBioMedicine - 1 Jul 2026
Peirano Elisa, O'Regan Laura, Harrer Philip, Dzinovic Ivana, Chegkazi Magda S, Havrankova Petra, Brunet Theresa, Capolino Rossella, Cesario Claudia, Ferro Stefania, Hammar Eva, Hà-Vinh Leuchter Russia, Indelicato Elisabetta, Jacob Maureen, Kunc Lukas, Margot Henri, Marin Oriano, Mazurkiewicz-Bełdzińska Maria, Mencacci Niccolò E, Novelli Antonio, Orec Laura, Poschmann Michael, Sitzberger Alexandra, Sorrentino Ugo, Spanjaard Melanie, Wagner Matias, Krygier Magdalena, Boesch Sylvia, Necpal Jan, Skorvanek Matej, Gilbert Donald L, Jech Robert, Dodding Mark, Steiner Roberto A, Zech Michael
Abstract excerpt
BACKGROUND: Although de novo causation in dystonia is widely acknowledged, there have been only a few trio-sequencing analyses in this field. We sought to prioritise de novo variants in dystonia and characterise the clinical and molecular features associated with the top gene candidate identified after genomic matchmaking. METHODS: We (re)assessed exome-sequencing data for de novo variants in genes with strong...
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