Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A Pérez-Jurado
PURPOSE: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex. METHODS: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability...
December 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics