{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:53:57Z","timestamp":1790016837991,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and\/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in<jats:italic> TGFBR2<\/jats:italic> and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (<jats:italic>Z<\/jats:italic>-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of<jats:italic> TGFBR2<\/jats:italic> was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T&gt;C, p.(L354P). Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant. This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition.<\/jats:p>","DOI":"10.1155\/2017\/7263780","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T16:02:17Z","timestamp":1483977737000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome"],"prefix":"10.1155","volume":"2017","author":[{"given":"Michael T.","family":"Zimmermann","sequence":"first","affiliation":[{"name":"Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raul A.","family":"Urrutia","sequence":"additional","affiliation":[{"name":"Laboratory of Epigenetics and Chromatin Dynamics, Departments of Biochemistry and Molecular Biology, Biophysics, and Medicine, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick R.","family":"Blackburn","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot A.","family":"Cousin","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole J.","family":"Boczek","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA"},{"name":"Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Macmurdo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-744X","authenticated-orcid":true,"given":"Paldeep S.","family":"Atwal","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA"},{"name":"Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc062573"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/bf03195701"},{"key":"3","volume-title":"Loeys-Dietz syndrome","year":"1993\u20132016"},{"issue":"10","key":"4","volume":"19","year":"2011","journal-title":"European Journal of Human Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3006448"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1021\/ja00124a002"},{"key":"7","year":"2017"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9991(77)90098-5"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl461"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/7263780.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/7263780.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/7263780.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T16:02:19Z","timestamp":1483977739000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2017\/7263780\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":10,"alternative-id":["7263780","7263780"],"URL":"https:\/\/doi.org\/10.1155\/2017\/7263780","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}