De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P. M. de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner, Antonio Pérez Aytés, Faustino Marin, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind (), George W. Padberg () and Hans van Bokhoven ()
Additional contact information
Laura Tomas-Roca: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Anastasia Tsaalbi-Shtylik: Leiden University Medical Center
Jacob G. Jansen: Leiden University Medical Center
Manvendra K. Singh: Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania
Jonathan A. Epstein: Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania
Umut Altunoglu: Istanbul Medical Faculty, Istanbul University
Harriette Verzijl: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Laura Soria: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Ellen van Beusekom: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Tony Roscioli: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Zafar Iqbal: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Christian Gilissen: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Alexander Hoischen: Radboud University Medical Center, Radboud Institute for Molecular Life Sciences (RIMLS)
Arjan P. M. de Brouwer: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Corrie Erasmus: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Dirk Schubert: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Han Brunner: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Antonio Pérez Aytés: Dysmorphology and Reproductive Genetics Unit, Moebius Syndrome Foundation of Spain, University Hospital LA FE
Faustino Marin: School of Medicine, University of Murcia
Pilar Aroca: School of Medicine, University of Murcia
Hülya Kayserili: Istanbul Medical Faculty, Istanbul University
Arturo Carta: Ophthalmology Unit, Biotechnological and Translational Sciences (S.Bi.Bi.T.), University of Parma
Niels de Wind: Leiden University Medical Center
George W. Padberg: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour
Hans van Bokhoven: Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour

Nature Communications, 2015, vol. 6, issue 1, 1-9

Abstract: Abstract Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively. Interestingly, analysis of Plxnd1 and Rev3l mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients.

Date: 2015
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DOI: 10.1038/ncomms8199

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