Primary Ciliary Dyskinesia (DNAI1-Related) (DNAI1)
Primary ciliary dyskinesia (DNAI1-related) is an autosomal recessive, pan-ethnic disorder that is caused by pathogenic variants in the gene DNAI1. 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.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Primary Ciliary Dyskinesia (DNAH1-Related)||DNAI1||1, 5, 7, 11, 13, 14, 16, 17, 19  (*6)||AR||Ashkenazi Jewish||1 in 352||>95%||0.000142429853297251|
|Primary Ciliary Dyskinesia (DNAH1-Related)||DNAI1||1, 5, 7, 11, 13, 14, 16, 17, 19  (*6)||AR||Worldwide||1 in 182||75%||0.00137931034482759|