Skewed X-chromosome inactivation drives the proportion of
Respiratory Tract Diseases
X-Linked Genetic Diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
26 Feb 2024
26 Feb 2024
Historique:
received:
19
10
2023
accepted:
10
02
2024
medline:
27
2
2024
pubmed:
27
2
2024
entrez:
26
2
2024
Statut:
aheadofprint
Résumé
Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked XCI patterns of six mothers of male patients with The mothers' phenotypes ranged from absence of symptoms to mild/moderate or severe airway phenotypes, closely reflecting their XCI pattern. Analyses of the symptomatic mothers' airway ciliated cells revealed the coexistence of normal cells and cells with immotile cilia lacking dynein arms, whose ratio closely mirrored their XCI pattern. This study highlights the importance of searching for heterozygous pathogenic
Sections du résumé
BACKGROUND
BACKGROUND
Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked
METHODS
METHODS
XCI patterns of six mothers of male patients with
RESULTS
RESULTS
The mothers' phenotypes ranged from absence of symptoms to mild/moderate or severe airway phenotypes, closely reflecting their XCI pattern. Analyses of the symptomatic mothers' airway ciliated cells revealed the coexistence of normal cells and cells with immotile cilia lacking dynein arms, whose ratio closely mirrored their XCI pattern.
CONCLUSION
CONCLUSIONS
This study highlights the importance of searching for heterozygous pathogenic
Identifiants
pubmed: 38408845
pii: jmg-2023-109700
doi: 10.1136/jmg-2023-109700
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.