{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:48:39Z","timestamp":1764175719991,"version":"3.43.0"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"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":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marfan syndrome (MFS) is a hereditary systemic connective tissue disorder with great clinical variability. It is caused by heterozygous pathogenic variants in the <jats:italic>FBN1<\/jats:italic> gene. Cardinal manifestations involve the cardiovascular, ocular, and skeletal systems. Clinical diagnosis is based on the revised Ghent nosology. We present the case of a child with a Marfan systemic score of 9 whose genetic study revealed two pathogenic mosaic frameshift variants in the <jats:italic>FBN1<\/jats:italic> gene. Mosaicism is very rare in patients diagnosed with MFS, and this is the first description of a patient with two pathogenic mosaic variants in the <jats:italic>FBN1<\/jats:italic> gene. Both variants are present in cells derived from ectodermal (buccal swab) and mesodermal (leukocyte) tissues, suggesting a mutation prior to gastrulation. We propose a defective repair of the de novo variant in the complementary strand as the mechanism that led this individual to be a carrier of two different populations of mutant cells carrying adjacent variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.63831","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T05:25:05Z","timestamp":1723785905000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Double somatic mosaicism in Marfan syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4506-3393","authenticated-orcid":false,"given":"Ignacio Arroyo","family":"Carrera","sequence":"first","affiliation":[{"name":"Pediatrics Department San Pedro de Alc\u00e1ntara Hospital  C\u00e1ceres Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Almudena","family":"Amor\u2010Salamanca","sequence":"additional","affiliation":[{"name":"Cardiology Department Health in Code S. L.  A Coru\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena M\u00e1rquez","family":"Isidro","sequence":"additional","affiliation":[{"name":"Pediatrics Department San Pedro de Alc\u00e1ntara Hospital  C\u00e1ceres Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlene","family":"P\u00e9rez\u2010Barbeito","sequence":"additional","affiliation":[{"name":"Cardiology Department Health in Code S. L.  A Coru\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Raquel Barrio","family":"Sacrist\u00e1n","sequence":"additional","affiliation":[{"name":"Pediatrics Department San Pedro de Alc\u00e1ntara Hospital  C\u00e1ceres Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Pablo","family":"Ochoa","sequence":"additional","affiliation":[{"name":"Cardiology Department Health in Code S. L.  A Coru\u00f1a Spain"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD\u2010Heart)  Madrid Spain"},{"name":"Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology Hospital Universitario Puerta de Hierro, IDIPHISA  Madrid Spain"},{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01078-6"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32229"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00797-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"volume-title":"GeneReviews\u00ae","year":"2022","author":"Dietz H.","key":"e_1_2_8_6_1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107604"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0369-8"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01455-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000333"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63512"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62339"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rec.2016.01.018"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63831","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T10:16:17Z","timestamp":1754993777000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,16]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/ajmg.a.63831"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63831","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,8,16]]},"assertion":[{"value":"2024-05-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63831"}}