Antonella Sferra, Paola Fortugno, Marialetizia Motta, Chiara Aiello, Stefania Petrini, Andrea Ciolfi, Francesca Cipressa, Isabella Moroni, Vincenzo Leuzzi, Luisa Pieroni, Federica Marini, Odile Boespflug Tanguy, Eleonore Eymard-Pierre, Federica Rachele Danti, Claudia Compagnucci, Giovanna Zambruno, Alfredo Brusco, Filippo M Santorelli, Luisa Chiapparini, Paola Francalanci, Anna Livia Loizzo, Marco Tartaglia, Gianluca Cestra, Enrico Bertini
Leukodystrophies are a heterogeneous group of rare inherited disorders that mostly involve the white matter of the CNS. These conditions are characterized by primary glial cell and myelin sheath pathology of variable aetiology, which causes secondary axonal degeneration, generally emerging with disease progression. Whole exome sequencing performed in five large consanguineous nuclear families allowed us to identify homozygosity for two recurrent missense variants affecting highly conserved residues of RNF220 as the causative event underlying a novel form of leukodystrophy with ataxia and sensorineural deafness...
November 29, 2021: Brain