Anne Legrand, Claire Pujol, Christelle M Durand, Aurélie Mesnil, Isabelle Rubera, Christophe Duranton, Stéphane Zuily, Ana Berta Sousa, Mathilde Renaud, Jean-Luc Boucher, Nicolas Pietrancosta, Salma Adham, Christophe Orssaud, Cecilia Marelli, Carlo Casali, Lucia Ziccardi, Nicolas Villain, Claire Ewenczyk, Alexandra Durr, Cyril Mignot, Giovanni Stevanin, Clarisse Billon, Marguerite Hureaux, Xavier Jeunemaitre, Cyril Goizet, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients. METHODS: First, family-based exome sequencing was performed, in one ABCC6-negative PXE patient with additional neurological features, and her relatives...
October 27, 2020: Journal of Internal Medicine