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A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Herein, the known human mutations associated with VOGMs are reviewed to provide a framework for future gene discovery. Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation\u2013arteriovenous malformation syndrome (<jats:italic>RASA1<\/jats:italic>) and hereditary hemorrhagic telangiectasia (<jats:italic>ENG<\/jats:italic> and <jats:italic>ACVRL1<\/jats:italic>). However, these mutations probably represent only a small fraction of all VOGM cases. Traditional genetic approaches have been limited in their ability to identify additional causative genes for VOGM because kindreds are rare, limited in patient number, and\/or seem to have sporadic inheritance patterns, attributable in part to incomplete penetrance and phenotypic variability. The authors hypothesize that the apparent sporadic occurrence of VOGM may frequently be attributable to de novo mutation or incomplete penetrance of rare transmitted variants. Collaboration among treating physicians, patients\u2019 families, and investigators using next-generation sequencing could lead to the discovery of novel genes for VOGM. This could improve the understanding of normal vascular biology, elucidate the pathogenesis of VOGM and possibly other more common arteriovenous malformation subtypes, and pave the way for advances in the diagnosis and treatment of patients with VOGM.<\/jats:p>","DOI":"10.3171\/2017.9.peds17365","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T14:55:23Z","timestamp":1516373723000},"page":"367-374","source":"Crossref","is-referenced-by-count":44,"title":["Human genetics and molecular mechanisms of vein of Galen malformation"],"prefix":"10.3171","volume":"21","author":[{"given":"Daniel","family":"Duran","sequence":"first","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Karschnia","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan R.","family":"Gaillard","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason K.","family":"Karimy","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark W.","family":"Youngblood","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"},{"name":"Department of Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael L.","family":"DiLuna","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles C.","family":"Matouk","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly","family":"Aagaard-Kienitz","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Wisconsin, Madison, Wisconsin; Departments of"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward R.","family":"Smith","sequence":"additional","affiliation":[{"name":"Neurosurgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darren B.","family":"Orbach","sequence":"additional","affiliation":[{"name":"Neurointerventional Radiology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Rodesch","sequence":"additional","affiliation":[{"name":"Service de Neuroradiologie Diagnostique et Th\u00e9rapeutique, H\u00f4pital Foch, Suresnes, France; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Berenstein","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"},{"name":"Department of Genetics,"},{"name":"Centers for Mendelian Genomics and Yale Program on Neurogenetics, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristopher T.","family":"Kahle","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery,"},{"name":"Centers for Mendelian Genomics and Yale Program on Neurogenetics, and"},{"name":"Department of Pediatrics and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, Connecticut;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1227","DOI":"10.1093\/hmg\/9.8.1227","article-title":"Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2","volume":"9","author":"Abdalla SA","year":"2000","unstructured":"Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, : Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. 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