Portal de investigación
De novo mutations in PLXND1 and REV3L cause Mobius syndrome
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Tomas-Roca L
- Tsaalbi-Shtylik A
- Jansen JG
- Singh MK
- Epstein JA
- Altunoglu U
- Verzijl H
- Soria L
- van Beusekom E
- Roscioli T
- Iqbal Z
- Gilissen C
- Hoischen A
- de Brouwer AP
- Erasmus C
- Schubert D
- Brunner H
- Marin F
- Aroca P
- Kayserili H
- Carta A
- de Wind N
- Padberg GW
- van Bokhoven H
Grupos
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 2041-1723, 2041-1723
- Tipo:
- Article
- Páginas:
- 7199-7199
- DOI:
- 10.1038/ncomms8199
- PubMed:
- 26068067
- Factor de Impacto:
- 6,287 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
NATURE COMMUNICATIONS NATURE PUBLISHING GROUP
Citas Recibidas en Web of Science: 56
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- No hay documentos
Filiaciones
Proyectos y Estudios Clínicos
RED DE SALUD MATERNO-INFANTIL Y DEL DESARROLLO
RD08/0072/0022 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008
RED DE SALUD MATERNO INFANTIL Y DEL DESARROLLO
Investigador Principal: MÁXIMO VENTO TORRES
RD12/0026/0012 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2013
Cita
Tomas L,Tsaalbi A,Jansen JG,Singh MK,Epstein JA,Altunoglu U,Verzijl H,Soria L,van E,Roscioli T,Iqbal Z,Gilissen C,Hoischen A,de Brouwer AP,Erasmus C,Schubert D,Brunner H,PÉREZ A,Marin F,Aroca P,Kayserili H,Carta A,de Wind N,Padberg GW,van H. De novo mutations in PLXND1 and REV3L cause Mobius syndrome. Nat. Commun. 2015. 6. p. 7199-7199. IF:11,329. (1).