Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

doi:10.1136/jmg-2023-109700

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Article

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Journal of medical genetics - 21 May 2024

Thomas Lucie, Cuisset Laurence, Papon Jean-Francois, Tamalet Aline, Pin Isabelle, Abou Taam Rola, Faucon Catherine, Montantin Guy, Tissier Sylvie, Duquesnoy Philippe, Dastot-Le Moal Florence, Copin Bruno, Carion Nathalie, Louis Bruno, Chantot-Bastaraud Sandra, Siffroi Jean-Pierre, Mitri Rana, Coste André, Escudier Estelle, Thouvenin Guillaume, Amselem Serge, Legendre Marie

Abstract excerpt

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 DNAAF6, which result in the absence of ciliary dynein arms, whereas their heterozygous mothers are supposedly healthy. Our objective was to assess the possible clinical and ciliary consequences of X-chromosome inactivation (XCI) in...

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Identifiers

PMID: 38408845
DOI: 10.1136/jmg-2023-109700

Genes

DNAAF6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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