loading page

Mutations in CCNO result in Primary ciliary dyskinesia complicated with diffuse bronchiolitis: a case report and literature review
  • +1
  • Lina Wang,
  • liwei gao,
  • Xiu-Yun Liu,
  • baoping xu
Lina Wang
Beijing Children's Hospital

Corresponding Author:[email protected]

Author Profile
liwei gao
beijing children's hospital
Author Profile
Xiu-Yun Liu
China National Clinical Research Center for Respiratory Diseases, Resiratory Department, Beijing Children’s Hospital,Capital Medical University, National Center for Children’s Health, Beijing, China
Author Profile
baoping xu
beijing children's hospital
Author Profile


Background: Primary ciliary dyskinesia (PCD) is a rare genomic disorder. The phenotype heterogeneity depends on the genotype. Critical genes mutant like CCNO had severe respiratory disease, while limited data are available until now. Case presentation: We presented a patient with neonatal respiratory distress at birth, and had cough with wheeze for 8 years as flows. According to clinical and imaging findings, screenings of PCD related genes showed compound heterozygous mutation of CCNO. We also overviewed the literature of CCNO-related PCD and compared to our patient. A total of 43 patients from 30 families were enrolled. Approximately 57.1% (24/42) of individuals were born in the consanguineous marriage family. Most patients developed onset symptoms at neonate, accounted for 85.3%. Recurrent respiratory tract infection (83.3%), neonatal respiratory distress (69.0%), and sinusitis/rhinorrhea (50.0%) were major manifestations, the subsequents were chronic cough 15/42(35.7%), and recurrent otitis media (28.6%); hear losing, infertility, congenital heart defects and hydrocephalus were rare, but heterotaxy was never seen. Bronchiectasis was the most common radiologic findings, while the patient in our study presented with special findings of diffuses small nodular in both lungs like diffuse pan-bronchiolitis (DPB). Thirteen different CCNO variants were identified with most located in exon 1 (79.1%, 34/43). Our participant was identified previously reported c.263_267dupAGCCC and c.258_262dupGGCCC mutation from her mother and father respectively. Conclusion: CCNO variants are rare in PCD patients, but it causes more severe phenotypes than the other genes. Neonatal respiratory distress is common, and diffuse bronchiolitis could be the radiologic feature of CCNO-related PCD.