DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

• DOI: 10.1155/2023/8436715
• Publication Date: 2023-04-25T21:20:06Z
• Authors: Fatemeh Sodeifian; Noosha Samieefar; Sepideh Shahkarami; Elham Rayzan; Simin Seyedpour; Meino Rohlfs; Christoph Klein; Delara Babaie; Nima Rezaei
• Keywords: Kartagener Syndrome; Motile cilium; Mucociliary clearance; Nonsense mutation; Intraflagellar Transport

Background. Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, otitis media are presentations this disease. It could manifest infertility in males well laterality defects both sexes, such situs abnormalities (Kartagener syndrome). During past decade, numerous pathogenic variants 40 genes have been identified causatives primary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) gene that responsible for production cilia’s protein encodes outer dynein arm. Dynein chains motor proteins arms play an essential role motility. Case Presentation. A 3-year-old boy, offspring consanguineous parents, was referred to pediatric clinical immunology outpatient department with history tract infections periodic fever. Furthermore, on medical examination, inversus recognized. His lab results revealed elevated levels erythrocyte sedimentation rate (ESR) C reactive (CRP). Serum IgG, IgM, IgA were normal, while IgE elevated. Whole exome sequencing (WES) performed patient. WES demonstrated novel homozygous nonsense variant (c.5247G > A; p. Trp1749Ter). Conclusion. We reported boy Biallelic one many coding involved process ciliogenesis lead PCD.