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

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein arm. D

SUBMITTER: Sodeifian F 

PROVIDER: S-EPMC10154638 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature