Parents

Clinical features
IFT27 is a gene that encodes a protein involved in protein transport, which is essential for the formation and function of cilia. Cilia are hair-like structures found on the surface of many cell types and play crucial roles in various cellular processes. Mutations in genes involved in cilia formation and function, such as IFT27, have been associated with “ciliopathies”, a group of genetic disorders characterized by abnormalities in the structure or function of cilia.

Bardet-Biedl syndrome (BBS) is one such ciliopathy, and mutations in the IFT27 gene have been implicated in a subset of cases of BBS, specifically known as Bardet-Biedl syndrome-19 (BBS19). This syndrome is mainly characterized by issues in the retina of the eye, causing vision problems like difficulty seeing in low-light or in severe cases blindness, obesity, extra fingers or toes, kidney problems, issues with the reproductive system, and intellectual disability.  

Prevalence
Largely unknown due to limited data.

Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.