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Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.

Annals of neurology - 1 Sept 2024

He Hailan, Cao Xiaoshuang, He Fang, Zhang Wen, Wang Xiaole, Peng Pan, Xie Changning, Yin Fei, Li Dengfeng, Li Jiada, Wang Minghui, Klüssendorf Malte, Jentsch Thomas J, Stauber Tobias, Peng Jing

Abstract excerpt

OBJECTIVE: The aim of this study was to explore the pathogenesis of CLCN6-related disease and to assess whether its Cl-/H+-exchange activity is crucial for the biological role of ClC-6. METHODS: 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...

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Identifiers

PMID: 38877824
DOI: 10.1002/ana.27002

Genes

CLCN6
TFEB

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