A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko Reutter, Carlo Marcelis, Rocío Acuña‐Hidalgo, Nehir Edibe Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria Francesca Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A.L.M. van Rooij, Alexander Hoischen
Abstract
None of the other candidate genes were identified as novel unequivocal disease genes for VACTERL. However, a genetics-first approach allowed refinement of the clinical diagnosis in seven patients, in whom an alternative molecular-based diagnosis was found with important implications for the counseling of the families.