Childhood-onset progressive dystonia ...
Document type :
Article dans une revue scientifique
DOI :
PMID :
Permalink :
Title :
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
Author(s) :
Doummar, D. [Auteur]
CHU Trousseau [APHP]
Treven, M. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Qebibo, L. [Auteur]
CHU Trousseau [APHP]
DEVOS, DAVID [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Ghoumid, Jamal [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Ravelli, C. [Auteur]
CHU Trousseau [APHP]
Kranz, G. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Krenn, M. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Demailly, D. [Auteur]
Hôpital Gui de Chauliac [CHU Montpellier]
Cif, L. [Auteur]
Service de Neurochirurgie [CHRU Montpellier]
Davion, J. B. [Auteur]
CIC CHU ( Lille)/inserm
Zimprich, F. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Burglen, L. [Auteur]
CHU Trousseau [APHP]
Zech, M. [Auteur]
Technische Universität Munchen - Technical University Munich - Université Technique de Munich [TUM]
CHU Trousseau [APHP]
Treven, M. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Qebibo, L. [Auteur]
CHU Trousseau [APHP]
DEVOS, DAVID [Auteur]

Lille Neurosciences & Cognition (LilNCog) - U 1172
Ghoumid, Jamal [Auteur]

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Ravelli, C. [Auteur]
CHU Trousseau [APHP]
Kranz, G. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Krenn, M. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Demailly, D. [Auteur]
Hôpital Gui de Chauliac [CHU Montpellier]
Cif, L. [Auteur]
Service de Neurochirurgie [CHRU Montpellier]
Davion, J. B. [Auteur]
CIC CHU ( Lille)/inserm
Zimprich, F. [Auteur]
Medizinische Universität Wien = Medical University of Vienna
Burglen, L. [Auteur]
CHU Trousseau [APHP]
Zech, M. [Auteur]
Technische Universität Munchen - Technical University Munich - Université Technique de Munich [TUM]
Journal title :
Annals of Clinical Translational Neurology
Abbreviated title :
Ann Clin Transl Neurol
Volume number :
8
Pages :
1986-1990
Publisher :
Wiley
Publication date :
2021-10
ISSN :
2328-9503
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Originally described as a risk factor for autism, CHD8 loss-of-function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8-related phenotype with ...
Show more >Originally described as a risk factor for autism, CHD8 loss-of-function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8-related phenotype with the description of two unrelated patients who presented with childhood-onset progressive dystonia. Whole-exome sequencing conducted in two independent laboratories revealed a CHD8 nonsense variant in one patient and a frameshift variant in the second. The patients had strongly overlapping phenotypes characterized by generalized dystonia with mild-to-moderate neurodevelopmental comorbidity. Deep brain stimulation led to clinical improvement in both cases. We suggest that CHD8 should be added to the growing list of neurodevelopmental disorder-associated genes whose mutations can also result in dystonia-dominant phenotypes.Show less >
Show more >Originally described as a risk factor for autism, CHD8 loss-of-function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8-related phenotype with the description of two unrelated patients who presented with childhood-onset progressive dystonia. Whole-exome sequencing conducted in two independent laboratories revealed a CHD8 nonsense variant in one patient and a frameshift variant in the second. The patients had strongly overlapping phenotypes characterized by generalized dystonia with mild-to-moderate neurodevelopmental comorbidity. Deep brain stimulation led to clinical improvement in both cases. We suggest that CHD8 should be added to the growing list of neurodevelopmental disorder-associated genes whose mutations can also result in dystonia-dominant phenotypes.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
CHU Lille
CHU Lille
Collections :
Submission date :
2023-06-05T07:13:48Z
2023-10-11T07:59:25Z
2023-10-11T07:59:25Z
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