Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

doi:10.1016/j.parkreldis.2020.02.003

Article

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

Parkinsonism & related disorders - 1 Mar 2020

Martinelli Simone, Cordeddu Viviana, Galosi Serena, Lanzo Ambra, Palma Eleonora, Pannone Luca, Ciolfi Andrea, Di Nottia Michela, Rizza Teresa, Bocchinfuso Gianfranco, Traversa Alice, Caputo Viviana, Farrotti Andrea, Carducci Claudia, Bernardini Laura, Cogo Susanna, Paglione Maria, Venditti Martina, Bentivoglio Annarita, Ng Joanne, Kurian Manju A, Civiero Laura, Greggio Elisa, Stella Lorenzo, Trettel Flavia, Sciaccaluga Miriam, Roseti Cristina, Carrozzo Rosalba, Fucile Sergio, Limatola Cristina, Di Schiavi Elia, Tartaglia Marco, Leuzzi Vincenzo

Abstract excerpt

OBJECTIVE: To investigate the molecular cause(s) underlying a severe form of infantile-onset parkinsonism and characterize functionally the identified variants. METHODS: A trio-based whole exome sequencing (WES) approach was used to identify the candidate variants underlying the disorder. In silico modeling, and in vitro and in vivo studies were performed to explore the impact of these variants on protein...

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Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

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