AUTHOR=Artesani Maria Cristina , Santarsiero Sara , Sitzia Emanuela , Lepri Francesca Romana , Magliozzi Monia , Majo Fabio , Ullmann Nicola , Stracuzzi Alessandra , Novelli Antonio , Cristalli Giovanni , Fiocchi Alessandro 

TITLE=A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 12 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1345265

DOI=10.3389/fped.2024.1345265

ISSN=2296-2360

ABSTRACT=Background 
Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP) which is reported in 6% of PCD children. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus. 
Case presentation 
We report a case of an eleven-year-old girl with recurrent otitis media, productive cough and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.
Conclusion
Children with CRSwNP should be treated in a multidisciplinary way (ENT, pulmonologist, allergist, pathologist, paediatrician and geneticist) because nasal polyposis often hides aetiologies that must be recognized.