Case Report: Rare Dynein Axonemal Heavy Chain 9 Mutations in a Han-Chinese Patient With Kartagener Syndrome

Abstract

A 52-year-old woman presented with respiratory symptoms of productive cough and shortness of breath. She had suffered from repeated pneumonia. The CT scans revealed chronic sinusitis, tree bud signs in pulmonary imaging, and situs inversus. She received a primary diagnosis of Kartagener syndrome of primary ciliary dyskinesia (PCD) and a genetic examination was performed. Compound heterozygous mutations in dynein axonemal heavy chain 9 (DNAH9) were identified, which encoded outer dynein arms (ODAs) components. DNAH9 mutations are relatively rare events in PCD, and this is the first report of PCD patients with DNAH9 mutations in the Chinese population. Further, a literature review of mutations in PCD was conducted.