A Novel Mutation in GAS8 Gene Associated with Chronic Rhinosinusitis with Nasal Polyposis in a Case of Primary Ciliary Dyskinesia: a Case Report

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2024 Jun 14

PMID 38873586

Authors

Maria Cristina Artesani

Sara Santarsiero

Emanuela Sitzia

Francesca Romana Lepri

Monia Magliozzi

Fabio Majo

Nicola Ullmann

Alessandra Stracuzzi

Antonio Novelli

Giovanni Cristalli

Alessandro Fiocchi

Affiliations

Soon will be listed here.

Abstract

Background: 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.

Case Presentation: 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.

Conclusion: 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.

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