دورية أكاديمية
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
| العنوان: | A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report. |
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| المؤلفون: | Artesani MC; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Santarsiero S; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sitzia E; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Majo F; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ullmann N; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Stracuzzi A; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Cristalli G; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Fiocchi A; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. |
| المصدر: | Frontiers in pediatrics [Front Pediatr] 2024 May 30; Vol. 12, pp. 1345265. Date of Electronic Publication: 2024 May 30 (Print Publication: 2024). |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Media SA, [2013]- |
| مستخلص: | 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2024 Artesani, Santarsiero, Sitzia, Lepri, Magliozzi, Majo, Ullmann, Stracuzzi, Novelli, Cristalli and Fiocchi.) |
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| فهرسة مساهمة: | Keywords: GAS8; bronchiectasis; chronic rhinosinusitis with nasal polyposis (CRSwNP); otitis; primary ciliary dyskinesia (PCD) |
| تواريخ الأحداث: | Date Created: 20240614 Latest Revision: 20240615 |
| رمز التحديث: | 20240615 |
| مُعرف محوري في PubMed: | PMC11169881 |
| DOI: | 10.3389/fped.2024.1345265 |
| PMID: | 38873586 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2296-2360 |
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| DOI: | 10.3389/fped.2024.1345265 |