{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T20:53:06Z","timestamp":1781815986826,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T00:00:00Z","timestamp":1584748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety\u2010five percent of MFS probands have a mutation in the fibrillin\u20101 gene (<jats:italic>FBN1<\/jats:italic>); however, there are a high number of unique mutations complicating attempts at establishing any phenotype\u2013genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13\u201321). One of the few extant genotype\u2013phenotype correlations is in exon 24\u201332 which have been associated with a severe pediatric presentation of neonatal MFS with predominately cardiovascular symptoms. We present a 24\u2010year\u2010old male patient with a heterozygous de novo variant NM_000138.4: c.3037G&gt;A (p.G1013R) located in exon 25 of the <jats:italic>FBN1<\/jats:italic> gene. The patient was found to have dysplastic mitral and tricuspid valves with dilated aortic root at 9\u2009months of age. This is a notable case in that the location of this patient's mutation and his age of symptom onset would indicate a guarded prognosis. Further, this mutation, <jats:italic>FBN1<\/jats:italic> G1013R, has been reported in the literature in four other unrelated patients all of whom presented at a young age with cardiac involvement and all of whom had relative longevity when compared to other patients with mutations in this exon 24\u201332 hot spot. These findings may represent a more specific genotype\u2013phenotype correlation within this mutational hot spot.<\/jats:p>","DOI":"10.1002\/ajmg.a.61567","type":"journal-article","created":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T15:34:14Z","timestamp":1584804854000},"page":"1329-1335","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A case of <scp>G1013R <i>FBN1<\/i><\/scp> mutation: A potential <scp>genotype\u2013phenotype<\/scp> correlation in severe Marfan syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1812-4282","authenticated-orcid":false,"given":"Brooke R.","family":"Willis","sequence":"first","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9004-2284","authenticated-orcid":false,"given":"Mianne","family":"Lee","sequence":"additional","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5213-2588","authenticated-orcid":false,"given":"Kavitha","family":"Rethanavelu","sequence":"additional","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine L. F.","family":"Fung","sequence":"additional","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna M. S.","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Queen Mary Hospital  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hui","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Queen Mary Hospital  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit S.","family":"Yeung","sequence":"additional","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan F. M.","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Health Clinical Genetic Service  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7044-5916","authenticated-orcid":false,"given":"Brian H. Y.","family":"Chung","sequence":"additional","affiliation":[{"name":"LKS Faculty of Medicine, Department of Pediatrics &amp; Adolescent Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32601"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0703"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.221804"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00380-016-0793-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0023441"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.21037\/acs.2017.11.03"},{"issue":"1","key":"e_1_2_8_9_1","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek G.","year":"1995","journal-title":"Journal of Human Genetics"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302582"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3182097219"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"},{"issue":"2","key":"e_1_2_8_14_1","first-page":"S74","article-title":"Neonatal Marfan Syndrome","volume":"36","author":"Tognato E.","year":"2019","journal-title":"American Journal of Perinatology"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161407"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61567","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61567","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61567","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T08:47:17Z","timestamp":1693990037000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,21]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1002\/ajmg.a.61567"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61567","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,21]]},"assertion":[{"value":"2019-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}