Changes in the DNA of the B9D2 gene can cause Meckel or Joubert syndrome (very similar disorders). For these diseases to manifest, the changes need to be present in both copies of the gene — one inherited from each parent. The B9D2 gene makes a protein found in almost all living things that have tiny hair-like structures called cilia. Till date, five changes (mutations) in the B9D2 gene have been linked to diseases caused by faulty cilia. This protein is found in parts of the cell that help build and keep cilia working properly. Studies in animals show that B9D2 is very important for making cilia. If the gene doesn’t work correctly, the cilia don’t form right, which leads to problems related to brain, limbs and kidney.
B9D2