Bandi et al, HGG Advances 2024

Tonne-Kalscheuer syndrome is a neurodevelopmental disorders associated with variants in the RLIM gene. In this project, we developed RLIM specific flow cytometry reporters to measure the impact of genetic variation on RLIM activity. Additionally, we identified a novel variant and used this assay to assess its pathogenicity.

汤恩-卡尔朔伊尔综合征（Tonne-Kalscheuer syndrome）是一种与RLIM基因变异相关的神经发育障碍。本项目中，我们构建了RLIM特异性流式细胞术报告系统，以量化遗传变异对RLIM活性的影响。此外，我们还鉴定出一种全新的变异，并利用该检测体系评估了其致病性。