Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.
Yuanyuan Sun, Leyi Wang, Liwei Zhang et al.
✦ AI-curated · Sources linked
Case in brief
A 2-year-old girl presented with generalized hypotonia and delayed language development, leading to the identification of a de novo missense variant in the KCNK3 gene through trio-whole exome sequencing. This case expands the understanding of KCNK3's role in neurodevelopmental disorders, supported by Drosophila model studies that demonstrated its function as a dosage-sensitive regulator of neurodevelopment.
Diagnostic / clinical pearl
Clinicians should consider KCNK3 as a potential candidate gene in cases of neurodevelopmental disorders, particularly when presented with developmental delays and hypotonia.
Why it matters
This case highlights the importance of reanalyzing genetic data and utilizing model organisms to uncover the roles of genes previously associated with other conditions, thereby broadening the understanding of neurodevelopmental disorders.