Increased diagnostic yield in complex dystonia through exome sequencing.
Fiche publication
Date publication
avril 2020
Journal
Parkinsonism & related disorders
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J
Lien Pubmed
Résumé
A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing.
Mots clés
Dystonia, Exome, Genetic diagnosis, Next generation sequencing, Phenotype
Référence
Parkinsonism Relat. Disord.. 2020 Apr 20;74:50-56