A pediatric case ofCCNOassociated congenital mucociliary disease – A novel entity in primary ciliary dyskinesia

Abstract

Recently, mutations in CCNO (encoding cyclin O) have been described as a novel genetic cause for primary ciliary dyskinesia (PCD). CCNO mutations are associated with reduced generation of motile cilia in the airways [1]. We here present the case of a two year old Syrian boy presenting with typical symptoms of PCD including recurrent respiratory infections, chronic cough and rhinitis and a history of neonatal RDS. In spite of the clinically suspected diagnosis of PCD, we could not detect any ciliar cells in repeated nasal brushings. Thus, we were unable to confirm PCD by evaluation of the ciliar motility. However, genetic screening of the CCNO gene yielded a homozygote loss of function mutation (c.248_252dup, p.Gly85Cysfs*11). This confirmed the diagnosis of CCNO associated PCD with „reduced generation of multiple motile cilia“. In conclusion, this case illustrates that in case of lack of ciliar cells in nasal brushings, CCNO genetics can confirm the PCD diagnosis. 1 Wallmeier et al. 2014 Nat Genet 46(6):646-51.