Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia. The condition affects the tiny hair-like structures, called cilia, that extend from various cells in the body and causes a range of symptoms: persistent lung, sinus, and ear infections, male infertility, and sometimes a reversed orientation of major organs in the body. The new discovery, made by a research team at Washington University School of Medicine in St. Louis, is reported online in the American Journal of Human Genetics. The research highlights the potential for using DNA sequencing technology to quickly identify genes responsible for rare diseases, an approach that probably would improve diagnosis.
“Primary ciliary dyskinesia is difficult to diagnose and requires a high degree of suspicion,” says senior author Thomas Ferkol, MD, director of the division of allergy, immunology, and pulmonary medicine and a pediatric specialist at St. Louis Children’s Hospital. “Because it is inherited, we should be able to diagnose the disease using genetic tests, so we can identify and treat affected children earlier and hopefully avoid the most severe chronic infections.”
The researchers found the error in a gene, HEATR2, which had never been linked to primary ciliary dyskinesia. It brings the number of genes associated with the disorder to 15, but those genetic errors are believed to account for fewer than half of all cases of the disorder. Read the study abstract.
