Article
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Journal of human genetics - 1 Apr 2023
Nakashima Mitsuko, Argilli Emanuela, Nakano Sayaka, Sherr Elliott H, Kato Mitsuhiro, Saitsu Hirotomo
Abstract excerpt
A recent study revealed that monoallelic missense or biallelic loss-of-function variants in the chloride voltage-gated channel 3 (CLCN3) cause neurodevelopmental disorders resulting in brain abnormalities. Functional studies suggested that some missense variants had varying gain-of-function effects on channel activity. Meanwhile, two patients with homozygous frameshift variants showed severe neuropsychiatric...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.