Methods
After informed consent was obtained, we collected clinical histories, laboratory tests, bronchoscopy, otoscope images, and radiographic data of the two siblings. Identification of respiratory pathogens derived from cultured bronchoalveolar lavage specimens was conducted. Whole blood of the siblings and their parents were separately harvested for whole-exome sequencing and Sanger sequencing. Then ciliary ultrastructural defect was confirmed by Transmission Electron Microscopy (TEM).
We also searched the literature of all the DNAAF2 mutations since first reported. The clinical data of these patients were summarized.