The American Society of Human Genetics (ASHG) 2020 Virtual Annual Meeting (October 27-30) opened today (Tuesday) and one of the highlights of many stimulating presentations was a talk entitled “Somatic Mutations in a Single Residue of UBA1 Are Associated with a Severe Adult-Onset Autoinflammatory Disease” (Abstract #1052). The ASHG meeting presentation was delivered by David B. Beck, MD, PhD, Clinical Fellow, Inflammatory Disease Section, National Human Genome Research Institute, NIH. At the end of his presentation, Dr. Beck noted that the work he just described was published online today (October27, 2020) in the New England Journal of Medicine (https://www.nejm.org/doi/full/10.1056/NEJMoa2026834). Dr. Beck is the first author on the NEJM article. In the abstract for today’s ASHG talk, Dr. Beck and colleagues noted that identifying the causes of adult-onset diseases remains a challenge in clinical genomics, and limits targeted diagnosis, prognosis, and treatment. The researchers hypothesized that mutations in genes regulating the post-translational modification of ubiquitin, previously implicated in inflammatory diseases, may define new rheumatologic disorders. Using a genotype-first approach, agnostic to inheritance or phenotype, the group analyzed peripheral blood exome sequence data from 2,560 individuals with inflammation-related diagnoses for deleterious mutations in highly-constrained genes. After discovering three patients with novel, somatic, UBA1 mutations at the same residue, the researchers identified and characterized additional cases based on clinical similarities.
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