Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect

摘要: Primary ciliary dyskinesia (PCD) is a genetic condition of impaired beating, characterized by chronic infections the upper and lower airways progressive lung failure. Defects outer dynein arms are most common cause PCD. In about half affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor subgroup including defects radial spokes (RS) central pair (CP) hallmarked absence laterality defects, subtle beating abnormalities, unequivocally apparent ultrastructural axoneme, making their diagnosis challenging. We identified homozygous loss-of-function mutations in STK36 one PCD-affected individual solitus. Transmission electron microscopy analysis demonstrates that required for cilia orientation human respiratory epithelial cells, probable localization between RS CP. screening can now be included this rare difficult to diagnose subgroup.