Ciliopathies are a group of disorders associated with cilia dysfunction. Cilia are tiny hair-like organelles attached to the cell surface. These structures are present on almost of cell types of the human body. They are found in kidney, liver, heart, pancreas, eye, brain, lungs, embryonic node, male and female reproductive system, bone/cartilage, and inner ear. Cilia plays a crucial role during development and have an essential role for body homeostasis. There are two types of cilia known as motile cilia and non-motile cilia (primary cilia). Ciliopathies are usually caused by the primary cilia dysfunction.
The WDR35 gene encodes for a WDR35 protein (also known as IFT121 protein), which belongs to the complex A of the intraflagellar transport machinery (IFT). IFT is evolutionary conserved process, which plays an essential role in cilia formation and function.
To date 39 variants in the WDR35 gene have been identified. These include 20 missense and 6 nonsense changes. Moreover, 7 splicing and 5 small deletions have been reported in the Human Gene Mutation Database (HGMD).
WDR35