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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in  ENG ,  ACVRL1  and  SMAD4 , which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. 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,  RASA1  and  GDF2 , which were recently reported to be involved in vascular disorders. To determine whether  RASA1  and  GDF2  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  ENG ,  ACVRL1  and  SMAD4 , but were clinically suspected to have HHT. Pathogenic mutations in  RASA1  were identified in two samples (2.15%) and a variant of unknown significance in  GDF2  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  RASA1  and  GDF2  screening in individuals suspected to have HHT will increase the detection rate and aid clinicians in making an accurate diagnosis.

Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia