{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["AB SOLiD 4 System"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001001250"],"host":["EGA"],"description":["EGA study EGAS00001001250"],"dataset_title":["Möebius"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["Möbius 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 Möbius 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."],"pubmed_title":["De novo mutations in PLXND1 and REV3L cause Möbius syndrome."],"pubmed_authors":["Tomas-Roca Laura L, Tsaalbi-Shtylik Anastasia A, Jansen Jacob G JG, Singh Manvendra K MK, Epstein Jonathan A JA, Altunoglu Umut U, Verzijl Harriette H, Soria Laura L, van Beusekom Ellen E, Roscioli Tony T, Iqbal Zafar Z, Gilissen Christian C, Hoischen Alexander A, de Brouwer Arjan P M APM, Erasmus Corrie C, Schubert Dirk D, Brunner Han H, Pérez Aytés Antonio A, Marin Faustino F, Marin Faustino F, Aroca Pilar P, Kayserili Hülya H, Carta Arturo A, de Wind Niels N, Padberg George W GW, van Bokhoven Hans H"],"additional_accession":[]},"is_claimable":false,"name":"Exome Sequencing in Moebius Syndrome","description":"Möbius syndrome (MBS; MIM 157900) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The etiology of this syndrome has been an enigma since the initial description in 1880 by von Graaefe and in 1888 by Möbius, and it has been debated for decades whether MBS has a genetic or a non-genetic etiology. Here, we reveal various de novo mutations affecting two genes, PLXND1 and REV3L. The finding that de novo mutations can cause Möbius syndrome will have considerable impact on further research, as well as in diagnostics. 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. However, analysis of Plxnd1 and Rev3l-mutant mice revealed that both genetic defects converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation.","dates":{"updated":"2020-07-16 15:39:02"},"accession":"EGAS00001001250","cross_references":{"TAXONOMY":["9606"],"pubmed":["26068067"],"EGA":["EGAD00001001385","EGAC00001000322"]}}