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Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

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Title: Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
Authors: Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. silvestre.cuinat@inserm.fr.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France. silvestre.cuinat@inserm.fr., Rouaud T; Service de Neurologie, CHU de Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France., Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France., Bordure P; Service d'ORL, CHU de Nantes, Nantes, France., Espitalier F; Service d'ORL, CHU de Nantes, Nantes, France., Viakhireva-Dovganyuk I; Service de Neurologie, CHU de Brest, Brest, France., Verloes A; Service de Génétique Clinique, APHP Robert Debré, Paris, France., Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Khiati S; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France., Procaccio V; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.; Département de Génétique, CHU d'Angers, Angers, France., Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.
Source: Neurogenetics [Neurogenetics] 2026 Jan 08; Vol. 27 (1), pp. 6. Date of Electronic Publication: 2026 Jan 08.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Cuinat+S%22">Cuinat S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. silvestre.cuinat@inserm.fr.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France. silvestre.cuinat@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Rouaud+T%22">Rouaud T</searchLink>; Service de Neurologie, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bordure+P%22">Bordure P</searchLink>; Service d'ORL, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Espitalier+F%22">Espitalier F</searchLink>; Service d'ORL, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Viakhireva-Dovganyuk+I%22">Viakhireva-Dovganyuk I</searchLink>; Service de Neurologie, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Service de Génétique Clinique, APHP Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vuillaume+ML%22">Vuillaume ML</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Khiati+S%22">Khiati S</searchLink>; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.<br /><searchLink fieldCode="AU" term="%22Procaccio+V%22">Procaccio V</searchLink>; MitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.; Département de Génétique, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Inserm UMR 1087/CNRS UMR 6291, Institut du Thorax, Nantes Université, Nantes, France.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2026 Jan 08; Vol. 27 (1), pp. 6. <i>Date of Electronic Publication: </i>2026 Jan 08.
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