Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene

Primary ciliary dyskinesia (PCD) involves cilia impairment, with resultant symptoms of repeated respiratory infections, sinusitis, and infertility. We report a seven-year-old boy of Arab ethnicity, with consanguineous parents, who was identified to have situs inversus totalis in neonatal life. There was a significant family history of ciliopathy as situs inversus totalis, infertility, and recurrent respiratory infections were noted in his two paternal uncles. From five months of age, the child started to have recurrent hospital visits due to respiratory infections. Infancy was marked by failure to thrive along with delay in achieving developmental milestones. Next-generation sequencing of known or potential ciliopathy genes revealed him homozygous for a novel mutation c.494T>C of the LRRC56 gene, thus defining PCD as a potential cause of his features.