Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder with ciliary dysfunction. The triad of situs inversus, chronic sinusitis, and bronchiectasis is termed Kartagener syndrome. We report a PCD patient presenting with Kartagener syndrome with a novel combination of DNAH11 alleles, i.e., a frameshift variant, c.2709del p.(Trp904Glyfs∗5), and a nonsense variant, c.3020T>G p.(Leu1007∗). The biallelic pathogenic variants were both rare and located close to the N-terminus. High-speed video microscopy revealed discordant cilia and diffuse-twisting wave-like movements of the airway epithelial cell populations. Researchers should note this phenomenon, and further investigation is necessary to clarify the role of DNAH11 in PCD.