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Symptoms of HHT can be present in individuals who test negative for mutations in these three genes indicating other genes may be involved. In this study, we tested for mutations in two genes, <jats:italic>RASA1<\/jats:italic> and <jats:italic>GDF2<\/jats:italic>, which were recently reported to be involved in vascular disorders. To determine whether <jats:italic>RASA1<\/jats:italic> and <jats:italic>GDF2<\/jats:italic> have phenotypic overlap with HHT and should be included in diagnostic testing, we developed a next-generation sequencing assay to detect mutations in 93 unrelated individuals who previously tested negative for mutations in <jats:italic>ENG<\/jats:italic>, <jats:italic>ACVRL1<\/jats:italic> and <jats:italic>SMAD4<\/jats:italic>, but were clinically suspected to have HHT. Pathogenic mutations in <jats:italic>RASA1<\/jats:italic> were identified in two samples (2.15%) and a variant of unknown significance in <jats:italic>GDF2<\/jats:italic> was detected in one sample. All three individuals experienced epistaxis with dermal lesions described in medical records as telangiectases. These results indicate that the inclusion of <jats:italic>RASA1<\/jats:italic> and <jats:italic>GDF2<\/jats:italic> screening in individuals suspected to have HHT will increase the detection rate and aid clinicians in making an accurate diagnosis.<\/jats:p>","DOI":"10.1038\/hgv.2015.40","type":"journal-article","created":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T08:40:04Z","timestamp":1446712804000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia"],"prefix":"10.1038","volume":"2","author":[{"given":"Felicia","family":"Hernandez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Huether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lester","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tami","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Gossage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron M","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,11,5]]},"reference":[{"key":"BFhgv201540_CR1","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1097\/GIM.0b013e3182136d32","volume":"13","author":"J McDonald","year":"2011","unstructured":"McDonald J, Bayrak-Toydemir P, Pyeritz RE . 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