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The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by M\u00f6bius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report <jats:italic>de novo<\/jats:italic> mutations affecting two genes, <jats:italic>PLXND1<\/jats:italic> and <jats:italic>REV3L<\/jats:italic> 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 <jats:italic>Plxnd1<\/jats:italic> and <jats:italic>Rev3l<\/jats:italic> mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that <jats:italic>PLXND1<\/jats:italic> and <jats:italic>REV3L<\/jats:italic> mutations are responsible for a proportion of MBS patients suggests that <jats:italic>de novo<\/jats:italic> mutations in other genes might account for other MBS patients.<\/jats:p>","DOI":"10.1038\/ncomms8199","type":"journal-article","created":{"date-parts":[[2015,6,12]],"date-time":"2015-06-12T09:49:07Z","timestamp":1434102547000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":101,"title":["De novo mutations in PLXND1 and REV3L cause M\u00f6bius syndrome"],"prefix":"10.1038","volume":"6","author":[{"given":"Laura","family":"Tomas-Roca","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Tsaalbi-Shtylik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob G.","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manvendra K.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Epstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriette","family":"Verzijl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Soria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"van Beusekom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zafar","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gilissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan P. 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