Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Rola Abou Taam, Catherine Faucon, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Florence Dastot-Le Moal, Bruno Copin, Nathalie Carion, Bruno Louis, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Rana Mitri, André Coste, Estelle Escudier, Guillaume Thouvenin, Serge Amselem, Marie Legendre
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 these mothers. METHODS: XCI patterns of six mothers of male patients with DNAAF6 -related PCD were determined by DNA-methylation studies and compared with their clinical phenotype (6/6 mothers), as well as their ciliary phenotype (4/6 mothers), as assessed by immunofluorescence and high-speed videomicroscopy analyses...
February 26, 2024: Journal of Medical Genetics