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Allelic truncating mutations of\n                      <jats:italic>FBN1<\/jats:italic>\n                      could cause either classical Marfan syndrome (MFS) or a more complicated phenotype associated with Marfanoid\u2013progeroid\u2013lipodystrophy syndrome (MPLS).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We investigated a small cohort, encompassing two classical MFS and one MPLS subjects\u00a0from China, whose clinical presentation included scoliosis potentially requiring surgical intervention. Targeted next generation sequencing was performed on all the participants. We analyzed the molecular diagnosis, clinical features, and the potential molecular mechanism involved in the MPLS subject in our cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We report a novel de novo\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation for the first Chinese subject\u00a0with MPLS, a more complicated fibrillinopathy, and two subjects\u00a0with more classical MFS. We further predict that the MPLS truncating mutation, and others previously reported, is prone to escape the nonsense\u2010mediated decay (NMD), while MFS mutations are predicted to be subjected to NMD. Also, the MPLS mutation occurs within the glucogenic hormone asprosin domain of FBN1. In vitro experiments showed that the single MPLS mutation p.Glu2759Cysfs*9 appears to perturb proper FBN1 protein aggregation as compared with the\u00a0classical MFS mutation p.Tyr2596Thrfs*86. Both mutations appear to upregulate SMAD2 phosphorylation in vitro.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We provide direct evidence that a dominant\u2010negative interaction of FBN1 potentially explains the complex MPLS phenotypes through genetic and functional analysis. Our study expands the mutation spectrum of\n                      <jats:italic>FBN1<\/jats:italic>\n                      and highlights the potential molecular mechanism for MPLS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1023","type":"journal-article","created":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T08:56:38Z","timestamp":1574844998000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in\n                    <i>FBN1<\/i>"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-8370","authenticated-orcid":false,"given":"Mao","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical 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