期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms8199
关键词
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资金
- Fundacion Seneca fellowship [04548/germ/06]
- EMBO short-term fellowship [200-2011]
- IBRO Project InEurope grants programme
- Fundacion Cultural Privada Esteban-Romero
- EU FP7 Large-Scale Integrating Project Genetic and Epigenetic Networks in Cognitive Dysfunction [241995]
- Scientific and Technological Research Council of Turkey (TUBITAK) [108S418, 112S398]
- CRANIRARE consortia of the European Research Area Network (E-RARE)
- Italian Association of Mobius Syndrome (AISMO)
- Dutch Cancer Society
- Netherlands Organization for Health Research and Development [ZonMW 916-12-095]
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.
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