Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

doi:10.1093/brain/awab185

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Article

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology - 29 Nov 2021

Sferra Antonella, Fortugno Paola, Motta Marialetizia, Aiello Chiara, Petrini Stefania, Ciolfi Andrea, Cipressa Francesca, Moroni Isabella, Leuzzi Vincenzo, Pieroni Luisa, Marini Federica, Boespflug Tanguy Odile, Eymard-Pierre Eleonore, Danti Federica Rachele, Compagnucci Claudia, Zambruno Giovanna, Brusco Alfredo, Santorelli Filippo M, Chiapparini Luisa, Francalanci Paola, Loizzo Anna Livia, Tartaglia Marco, Cestra Gianluca, Bertini Enrico

Abstract excerpt

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...

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PMID: 33964137
DOI: 10.1093/brain/awab185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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