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

Jingjing Feng; Junqing Li; Yong Du; Tianyun Shi; Lokesh Sharma; Zhijun Jie

doi:10.3389/fmed.2022.893968

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

Front Med (Lausanne). 2022 Jun 13:9:893968. doi: 10.3389/fmed.2022.893968. eCollection 2022.

Authors

Jingjing Feng¹, Junqing Li¹, Yong Du¹, Tianyun Shi¹, Lokesh Sharma², Zhijun Jie¹

Affiliations

¹ Department of Pulmonary and Critical Care Medicine, Shanghai Fifth People's Hospital, Center of Community-Based Health Research, Fudan University, Shanghai, China.
² Section of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT, United States.

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.

Keywords: DNAH9; PCD; gene mutation; kartagener syndrome; situs inversus.

Publication types

Case Reports