Abstract
The de novo c.1658A>G (p.Tyr553Cys) missense variant in CLCN6, which encodes the late endosomal Cl-/H+-exchanger ClC-6, was recently identified as a novel pathogenic variant associated with severe, early-onset neurodegenerative disease in 3 unrelated European children. Global developmental delay, generalized hypotonia, respiratory insufficiency, and diffusion restriction on MRI brain were described as diagnostic features. On a cellular level, functional studies demonstrated a gain-of-function in ClC-6 especially prominent at acidic external pH levels, such as those in late endosomes and lysosomes.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
