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.