A newly identified mutation in the HEATR2 gene causes a rare disease, primary ciliary dyskinesia, in some patients. The gene makes a protein that powers hair-like structures called cilia to beat, removing pollutants and bacteria from the lungs, nose and ears. In cells lining the nose, the HEATR2 protein (red, at left) is present in a healthy person. But in a patient with the disorder, HEATR2 is missing and cilia (green) can’t beat, leading to chronic infections.
Horani, A, Druley TE, Bayly PV, Brody SL, Dutcher SK, Ferkol TW et al. Whole-exome capture and sequencing identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia. American Journal of Human Genetics. Oct. 5, 2012.