{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:36:48Z","timestamp":1780591008163,"version":"3.54.1"},"reference-count":40,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Type-1 fibrillinopathies, caused by pathogenic variants in the FBN1 gene, show complex genotype-phenotype correlations. Studying these patterns in under-researched populations like Sri Lanka can provide valuable insights into their genetic basis. The objective of this study was to analyse genotype-phenotype correlations in Sri Lankan patients with type-1 fibrillinopathies. Methods: The genotype and clinical data of all patients undergoing exome sequencing in our centre have been maintained in a database since 2014. In January 2024, this database was searched to identify all patients who were reported to have variants in the FBN1 (NM_000138.5) gene. The genotype and phenotype data of these patients were analysed using bioinformatics tools and standard descriptive statistics. Results: There were 12 unrelated patients. A total of 6 (50%) were male. Age ranged from 1 to 18 years. All were sporadic and had a distinct heterozygous variant. The phenotype found in these patients together with the associated genotype was as follows: Marfan syndrome \u2013 6 (50%) [c.7487G&gt;C, c.6496G&gt;A, c.4245delT, c.3037G&gt;A, c.2797_2807delTTCAAGTGTCA, c.3472G&gt;A]; MASS syndrome \u2013 5 (41.7%) [c.2926C&gt;T, c.2419G&gt;A, c.5674A&gt;G, c.3338-1G&gt;C, c.3089A&gt;G]; and ectopia lentis syndrome \u2013 1 (8.3%) [c.355T&gt;G]. Four (33.3%) variants were novel. Frameshift and splice-site variants were associated with pronounced skeletal and facial dysmorphic features. However, neonatal region variants did not consistently cause severe disease. Conclusions: This is the first study to report type-1 fibrillinopathies in the Sri Lankan population. The lack of strong genotype-phenotype correlation suggests the possibility of other genetic modifiers in the Sri Lankan population.<\/jats:p>","DOI":"10.1159\/000549606","type":"journal-article","created":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T17:01:35Z","timestamp":1763398895000},"page":"1-12","source":"Crossref","is-referenced-by-count":1,"title":["Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5066-9840","authenticated-orcid":false,"given":"Yasas D.","family":"Kolambage","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8514-6380","authenticated-orcid":false,"given":"Amila L.","family":"Cooray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.G. Thushara","family":"Priyawansha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.P. Bhagya","family":"Hendalage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udari A.","family":"Liyanage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vajira H.W.","family":"Dissanayake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s12055-018-0761-9"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000155243.70456.F4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9149(00)80066-1"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0754-6"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.21037\/apm-21-2305"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab266"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.123"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01132-x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-023-04357-8"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01569-4"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv739"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.943083"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.002058"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2013.08.004"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2023.1302285"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2015.03.423"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2017.07.004"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.037283"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-11619"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0371-x"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12314"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1086\/302582"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.7150\/ijms.60685"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu283"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2018.07.016"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3182097219"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.207"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61567"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.22.6659"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.221804"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.91"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2019.06.066"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2471"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000549606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T17:00:48Z","timestamp":1767718848000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000549606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,17]]},"references-count":40,"URL":"https:\/\/doi.org\/10.1159\/000549606","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,17]]}}}