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De novo mutations in PLXND1 and REV3L cause Mobius syndrome


Mobius 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 Mobius 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.

Type Journal
ISBN 2041-1723 (Electronic) 2041-1723 (Linking)
Authors Tomas-Roca, L. ; Tsaalbi-Shtylik, A. ; Jansen, J. G. ; Singh, M. K. ; Epstein, J. A. ; Altunoglu, U. ; Verzijl, H. ; Soria, L. ; van Beusekom, E. ; Roscioli, T. ; Iqbal, Z. ; Gilissen, C. ; Hoischen, A. ; de Brouwer, A. P. ; Erasmus, C. ; Schubert, D. ; Brunner, H. ; Perez Aytes, A. ; Marin, F. ; Aroca, P. ; Kayserili, H. ; Carta, A. ; de Wind, N. ; Padberg, G. W. ; van Bokh
Responsible Garvan Author (missing name)
Publisher Name Nature Communications
Published Date 2015-01-01
Published Volume 6
Published Pages 7199
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version