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De novo mutations in PLXND1 and REV3L cause Mobius syndrome

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dc.contributor.authorTomas-Roca, Laura
dc.contributor.authorTsaalbi-Shtylik, Anastasia
dc.contributor.authorJansen, Jacob G.
dc.contributor.authorSingh, Manvendra K.
dc.contributor.authorEpstein, Jonathan A.
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorVerzijl, Harriette
dc.contributor.authorSoria, Laura
dc.contributor.authorBeusekom, Ellen van
dc.contributor.authorRoscioli, Tony
dc.contributor.authorIqbal, Zafar
dc.contributor.authorGilissen, Christian
dc.contributor.authorHoischen, Alexander
dc.contributor.authorde Brouwer, Arjan P.M.
dc.contributor.authorErasmus, Corrie
dc.contributor.authorSchubert, Dirk
dc.contributor.authorBrunner, Han
dc.contributor.authorPerez Aytes, Antonio
dc.contributor.authorKayserili, Hulya
dc.contributor.authorCarta, Arturo
dc.contributor.authorde Wind, Niels
dc.contributor.authorPadberg, George W.
dc.contributor.authorBokhoven, Hans van
dc.contributor.authorAroca Tejedor, Pilar
dc.contributor.authorMarín San Leandro, Faustino
dc.contributor.departmentAnatomía Humana y Psicobiología
dc.contributor.departmentDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB,The Netherlands.
dc.contributor.departmentDepartment of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
dc.contributor.departmentDepartment of Cell andDevelopmental Biology, Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, 9-105 SCTR, 3400 Civic Center Boulevard,Philadelphia, Pennsylvania 19104, USA
dc.contributor.departmentSignature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Graduate Medical SchoolSingapore, National Heart Center Singapore, 8 College Road, Singapore 169857, Singapore
dc.contributor.departmentMedical Genetics Department, Istanbul Medical Faculty,Istanbul University, Millet Caddesi, Capa, Fatih 34093, Turkey.
dc.contributor.departmentDepartment of Neurology, Radboud University Medical Center, Donders Institute for Brain,Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
dc.contributor.departmentThe Kinghorn Centre for Clinical Genomics, Garvan Institute of MedicalResearch, Sydney, New South Wales 2010, Australia
dc.contributor.departmentDepartment of Human Genetics, Radboud University Medical Center, Radboud Institute for MolecularLife Sciences (RIMLS), PO Box 9101, Nijmegen 6500 HB, The Netherlands.
dc.contributor.departmentDepartment of Cognitive Neuroscience, Radboud University Medical Center,Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands
dc.contributor.departmentDepartment of Clinical Genetics, MaastrichtUniversity Medical Center, PO Box 5800, Maastricht 6200AZ, The Netherlands.
dc.contributor.departmentDysmorphology and Reproductive Genetics Unit, Moebius SyndromeFoundation of Spain, University Hospital LA FE, Valencia 46540, Spain.
dc.contributor.departmentOphthalmology Unit, Department of Biomedical, Biotechnological and TranslationalSciences (S.Bi.Bi.T.), University of Parma, via Gramsci 14, 43126, Parma, Italy
dc.date.accessioned2021-03-24T08:28:55Z
dc.date.available2021-03-24T08:28:55Z
dc.date.created2015
dc.date.issued2015-06-12
dc.description.abstractMo ̈bius syndrome (MBS) is a neurological disorder that is characterized by paralysis of thefacial nerves and variable other congenital anomalies. The aetiology of this syndrome hasbeen enigmatic since the initial descriptions by von Graefe in 1880 and by Mo ̈bius in 1888,and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology.Here, we reportde novomutations affecting two genes,PLXND1andREV3Lin MBS patients.PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development:neural migration and DNA translesion synthesis, essential for the replication of endogenouslydamaged DNA, respectively. Interestingly, analysis ofPlxnd1andRev3lmutant mice showsthat disruption of these separate pathways converge at the facial branchiomotor nucleus,affecting either motoneuron migration or proliferation. The finding thatPLXND1andREV3Lmutations are responsible for a proportion of MBS patients suggests thatde novomutations inother genes might account for other MBS patientses
dc.formatapplication/pdfes
dc.format.extent9es
dc.identifier.citationNature Communications
dc.identifier.doi10.1038/ncomms8199
dc.identifier.urihttp://hdl.handle.net/10201/105585
dc.languageenges
dc.relationL.T.-R. is a recipient of grants from the Fundacio´n Se´neca fellowship (04548/germ/06), EMBO short-term fellowship 200–2011, the IBRO Project InEurope grants programme and the Fundacio´n Cultural Privada Esteban- Romero. Research in the group of H.v.B. is supported by the EU FP7 Large-Scale Integrating Project Genetic and Epigenetic Networks in Cognitive Dysfunction (241995). H.K. is supported by the Scientific and Technological Research Council of Turkey (TUBITAK), grants 108S418 and 112S398 and CRANIRARE consortia of the European Research Area Network (E-RARE). The work of A.C. was supported by a grant from the Italian Association of Mo¨bius Syndrome (AISMO, www.moebius-italia.it). A.T.-S. was funded in part by the Dutch Cancer Society and A.H. by the Netherlands Organization for Health Research and Development (ZonMW 916-12-095).es
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectMobius syndromees
dc.subjectPLXND1es
dc.subjectREV3Les
dc.subject.otherCDU::5 - Ciencias puras y naturaleses
dc.titleDe novo mutations in PLXND1 and REV3L cause Mobius syndromees
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublication39981627-8a1e-4c85-b05b-af14ef212804
relation.isAuthorOfPublicationf2e3d6ed-ce98-4d29-9a0e-6f639f216e96
relation.isAuthorOfPublication.latestForDiscovery39981627-8a1e-4c85-b05b-af14ef212804
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