Primary ciliary dyskinesia (PCD) is an autosomal recessive disease that results from mutations affecting the normal function of cilia. Expression of the DPCD product of the uncharacterised gene dpcd has been shown to increase during ciliated cell differentiation []. Nevertheless, an analysis of DPCD mutations in cases of human PCD was not able to confirm any specific disease-causing mutations, although one variant could not be ruled out. DPCD therefore remains a novel candidate gene for PCD [].
