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

## TL;DR

A new mutation in the GAS8 gene is linked to chronic rhinosinusitis with nasal polyposis in a child with primary ciliary dyskinesia.

## Contribution

A novel nonsense mutation in the GAS8 gene is reported in a case of primary ciliary dyskinesia with chronic rhinosinusitis and nasal polyposis.

## Key findings

- An 11-year-old girl with PCD had a novel homozygous nonsense mutation in the GAS8 gene.
- The GAS8 variant was associated with chronic rhinosinusitis with nasal polyposis and recurrent respiratory infections.
- Multidisciplinary care is recommended for children with CRSwNP to uncover underlying genetic causes.

## Abstract

Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. 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.

We report a case of an 11-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.

Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.