Primary Ciliary Dyskinesia (DNAI2-related) (DNAI2)
Primary ciliary dyskinesia (DNAI2-related) is an autosomal recessive disorder caused by pathogenic variants in the DNAI2 gene. While it is found in different ethnicities around the world, it is more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. In affected patients, ciliary dysfunction results in chronic sinusitis and bronchiectasis, frequent bouts of pneumonia, and hearing loss associated with recurrent ear infections. Most infants require respiratory assistance in the first few weeks of life. Approximately half of all affected adult males are infertile due to sperm immobility. Situs inversus, a benign condition where the internal organs are found on the opposite side of the body, is a random occurrence and therefore is expected to occur in 50% of affected individuals. Some patients have abnormal left-right axis patterning resulting in organ malformations, including the heart. These patients may have a poor prognosis. No genotype-phenotype relationship is known.
For information about carrier frequency and residual risk, please see the residual risk table.