POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Elodie SanchezBéryl Laplace-BuilhéFrédéric Tran Mau-ThemEric RichardAlice GoldenbergTomi L TolerThomas GuignardVincent GatinoisMarie VincentCatherine BlanchetAnne BolandMarie Thérèse BihoreauJean-Francois DeleuzeRobert OlasoWalton NephiHermann-Josef LüdeckeJoke B G M VerheijFlorence Moreau-LenoirFrançoise DenoyelleJean-Baptiste RivièreJean-Louis LaplancheMarcia WillingGuillaume CaptierFlorence ApparaillyDagmar WieczorekCorinne ColletFarida DjouadDavid GenevièvePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Pathogenic variants in the RNA polymerase I subunit POLR1B might induce massive p53-dependent apoptosis in a restricted neuroepithelium area, altering NCC migration and causing cranioskeletal malformations. We identify POLR1B as a new causative gene responsible for a novel TCS syndrome (TCS4) and establish a novel experimental model in zebrafish to study POLR1B-related TCS.