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Primary ciliary dyskinesia

From SNPedia

Primary ciliary dyskinesia (PCD) is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the potential inability to have children (infertility). Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.GHR

Recessively inherited mutations in at least 37 different genes may lead to different types of primary ciliary dyskinesia. Mutations in the DNAI1 and DNAH5 genes account for up to 30 percent of all cases of primary ciliary dyskinesia; mutations in the other 35+ genes account for only a small percentage of cases. Overall, primary ciliary dyskinesia is thought to occur in approximately 1 in 16,000 individuals. GHR

In the DNAI1 gene, the most common pathogenic mutation associated with PCD (type 1) appears to be rs397515363; in the DNAH5 gene, which is associated with type-3 PCD, at least 60 different mutations have been reported and no single mutation appears to be far more frequent than the others.