Ciliopathies Gene Panel
PD Dr. med. Julia Höfele
Cilia are essential cell organelles which in the kidney serve as mechano-, chemo-, and osmotic sensors. They play a significant role in several signal transduction pathways, which are important for an adequate organ development, the maintenance of tissue homeostasis and in basic developmental processes. A lot of different proteins and therefore genes are involved in the construction of cilia, which explains the clinical and genetic heterogeneity of the listed disease in the following table. A molecular genetic analysis using next generation sequencing can facilitate disease classification.
All coding exons and their flanking intronic sequences from the genes in the ciliopathies gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).