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

Abstract

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.

Keywords: a new variant; lrrc56; lrrc56 gene; paediatrics respiratory infection; primary ciliary dyskinesia; primary ciliary dyskinesia (pcd); respiratory infection; situs inversus totalis.

Figure 1. Chest X-ray (anteroposterior view) depicting dextrocardia (white arrow)

Figure 2. Coronal section of the abdomen and chest CT exhibiting situs inversus totalis (dextrocardia demonstrated by a black arrow and peritoneal organ inversion demonstrated by white arrows)