Mutations in CCNO result in Primary ciliary dyskinesia complicated with
diffuse bronchiolitis: a case report and literature review
Abstract
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.