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Show 133 school of medicine and health sciences Aortapathy is a group of disorders that includes aneurysms, dilation, and tuortosity of the aorta. Ten aortapathy genes have been described. Marfan syndrome (MFS), the most common aortapathy, is caused by mutations in fibrillin-1 (FBN1). Loeys-Dietz syndrome (LDS) and Ehlers-Danlos syndrome (EDS) type IV overlap clinically with MFS and are caused by mutations in the transcription growth fac-tor beta receptor (TGFBR1/ TGFBR2) and collagen 3 (COL3A1), respectively. Purpose: Because of the phenotypic overlap and genetic heterogeneity of these disorders, we devel-oped a next generation sequencing assay to detect mutations in these four genes and six others that cause thoracic aortic aneurysms. This assay will allow physicians to test patients for many genetic disorders that manifest symptoms suggestive of an aortapathy disorder in a single test at a lower cost. Methods: SureSelect hybridization capture enrichment was used to enrich for ten aortapathies genes in eight symptomatic patient samples. Six of these patient samples had previously undergone DNA testing and were negative for Marfan Syndrome and Loeys-Dietz Syndrome. Enriched samples were then barcoded/indexed, pooled, and sequenced (Illumina HiSeq2000). Results were analyzed, and overall coverage distribution was evaluated for each sample. Results: The hybridization capture enrichment and subsequent DNA sequencing accurately identified sequencing variants in all eight patient samples. Overall coverage was comparable across the 294 ex-ons. Analysis of the sequence variants identified is currently underway. These results may reveal the disease-causative mutation in these patients and facilitate proper treatment. Conclusion: Our panel assay will aid physicians in a clinical setting in the timely diagnosis of patients with aortapathy disorders. THE CLINICAL UTILITY OF NEXT GENERATION SEQUENCING IN THE DIAGNOSIS OF PATIENTS WITH MARFAN AND MARFAN LIKE SYNDROMES. Parker Plant, (Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir) Department of Pathology, ARUP University of Utah UNDERGRADUATE RESEARCH ABSTRACTS Parker Plant Pinar Bayrak-Toydemir |
