Journal
Case reports in medicine
ISSN: 1687-9627
Titre abrégé: Case Rep Med
Pays: United States
ID NLM: 101512910
Informations de publication
Date de publication:
2023
2023
Historique:
received:
13
11
2022
revised:
02
04
2023
accepted:
12
04
2023
medline:
8
5
2023
pubmed:
8
5
2023
entrez:
8
5
2023
Statut:
epublish
Résumé
Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. We reported a novel homozygous nonsense variant in
Sections du résumé
Background
UNASSIGNED
Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia.
Conclusion
UNASSIGNED
We reported a novel homozygous nonsense variant in
Identifiants
pubmed: 37153356
doi: 10.1155/2023/8436715
pmc: PMC10154638
doi:
Types de publication
Case Reports
Langues
eng
Pagination
8436715Informations de copyright
Copyright © 2023 Fatemeh Sodeifian et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
Références
Hum Genet. 2006 Sep;120(2):171-8
pubmed: 16783569
PLoS One. 2021 Jun 16;16(6):e0252786
pubmed: 34133440
Lancet Respir Med. 2020 Feb;8(2):202-216
pubmed: 31624012
Eur Respir J. 2009 Dec;34(6):1264-76
pubmed: 19948909
Chest. 2018 Sep;154(3):645-652
pubmed: 29800551
Eur Respir J. 2017 Jan 4;49(1):
pubmed: 27836958
Circulation. 2007 Jun 5;115(22):2814-21
pubmed: 17515466
J Med Genet. 2015 Jan;52(1):1-9
pubmed: 25351953
Paediatr Respir Rev. 2016 Mar;18:18-24
pubmed: 26476603
Clin Chest Med. 2016 Sep;37(3):449-61
pubmed: 27514592
Genet Med. 2009 Jul;11(7):473-87
pubmed: 19606528
Eur J Clin Invest. 2014 May;44(5):477-85
pubmed: 24597492
Front Pediatr. 2017 Jun 09;5:135
pubmed: 28649564
BMC Med Genet. 2020 Nov 26;21(1):237
pubmed: 33243178
J Clin Invest. 2002 Mar;109(5):571-7
pubmed: 11877463
Nat Genet. 2022 Jan;54(1):62-72
pubmed: 34903892
Appl Clin Genet. 2017 Sep 19;10:67-74
pubmed: 29033599
Am J Respir Crit Care Med. 2013 Nov 15;188(10):1224-31
pubmed: 23992479
Pediatr Pulmonol. 2016 Feb;51(2):115-32
pubmed: 26418604
Mol Genet Genomic Med. 2021 Jul;9(7):e1726
pubmed: 34132502