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Doummar, D.* ; Treven, M.* ; Qebibo, L.* ; Devos, D.* ; Ghoumid, J.* ; Ravelli, C.* ; Kranz, G.* ; Krenn, M.* ; Demailly, D.* ; Cif, L.* ; Davion, J.B.* ; Zimprich, F.* ; Burglen, L.* ; Zech, M.

Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.51444 (2021)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Verlag Wiley
Verlagsort Chichester [u.a.]
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen German Research Foundation