Article
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
European journal of human genetics : EJHG - 1 Nov 2021
Doornbos Cenna, van Beek Ronald, Bongers Ernie M H F, Lugtenberg Dorien, Klaren Peter H M, Vissers Lisenka E L M, Roepman Ronald, Oud Machteld M
Abstract excerpt
Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This group of disorders is marked by genetic and clinical heterogeneity, which complicates accurate diagnosis. In this study, we developed a robust, standardized immunofluorescence approach to accurately diagnose a subset of these disorders. Hereto we determined...
Topics
- Cells, Cultured
- Cilia
- Ciliopathies
- Fibroblasts
- Genetic Heterogeneity
- Genetic Testing
- High-Throughput Screening Assays
- Humans
- Phenotype
- Sensitivity and Specificity