Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
15 Jun 2024
15 Jun 2024
Historique:
revised:
30
04
2024
received:
16
10
2023
accepted:
08
05
2024
medline:
15
6
2024
pubmed:
15
6
2024
entrez:
15
6
2024
Statut:
aheadofprint
Résumé
The aim of this study was to explore the pathogenesis of CLCN6-related disease and to assess whether its Cl We performed whole-exome sequencing on a girl with development delay, intractable epilepsy, behavioral abnormities, retinal dysfunction, progressive brain atrophy, suggestive of neuronal ceroid lipofuscinoses (NCLs). We generated and analyzed the first knock-in mouse model of a patient variant (p.E200A) and compared it with a Clcn6 We identified a de novo heterozygous p.E200A variant in the proband. Expression of disease-causing ClC-6 CLCN6 is a novel genetic cause of NCLs, highlighting the importance of considering CLCN6 mutations in the diagnostic workup for molecularly undefined forms of NCLs. Uncoupling of Cl
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Key Research and Development Program of Hunan Province
ID : 2022SK2036
Organisme : Natural Science Foundation of Hunan Province
ID : 2022JJ40785
Organisme : National Natural Science Foundation of China
ID : 81771409
Organisme : National Natural Science Foundation of China
ID : 82071462
Organisme : National Natural Science Foundation of China
ID : 82201316
Organisme : Deutsche Forschungsgemeinschaft
ID : FOR2625
Organisme : China Postdoctoral Science Foundation
ID : 2023M733950
Informations de copyright
© 2024 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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