Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
06
08
2021
received:
02
07
2021
accepted:
06
08
2021
pubmed:
21
8
2021
medline:
26
2
2022
entrez:
20
8
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34415117
doi: 10.1002/acn3.51444
pmc: PMC8528468
doi:
Substances chimiques
CHD8 protein, human
0
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1986-1990Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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