{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T07:45:05Z","timestamp":1776152705974,"version":"3.50.1"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001742","name":"BSF","doi-asserted-by":"publisher","award":["2017265"],"award-info":[{"award-number":["2017265"]}],"id":[{"id":"10.13039\/501100001742","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010800","name":"Hadassah Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010800","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Mitral valve prolapse (MVP) is a common valvular disorder associated with significant morbidity and mortality, with a strong genetic basis. This study aimed to identify a mutation in a family with MVP and to characterize the valve phenotype in LTBP2 knockout (KO) mice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Exome sequencing and segregation analysis were performed on a large family with MVP. Two mouse strains were generated: a complete KO of the LTBP2 gene and a knockin (KI) of the human mutation. At 6 months, phenotyping was conducted using echocardiography, histology, eye optical coherence tomography, and quantitative polymerase chain reaction analysis for TGF-\u03b2 signalling targets (periostin\/POSTN, RUNX2, and CTGF) in valve tissues. LTBP2 rs117800773 V1506M mutation exhibited segregation with MVP. LTBP2 KO mice had a higher incidence of myxomatous changes by histology (7 of 9 of KO vs. 0 of 7 control animals, P = 0.00186) and echocardiography (7 of 9 vs. 0 of 8, P = 0.0011). LTBP2 KI mice for the human mutation showed a significantly elevated myxomatous histological phenotype (8 of 8 vs. 0 of 9, P = 0.00004) as well as by echocardiography (6 of 8 vs. 0 of 9, P = 0.00123). Knockout mice demonstrated an increase in the depth of the anterior chamber as well as reduced visual acuity. LTBP2 KO mice demonstrated overexpression of both TGF-\u03b2 signalling targets RUNX2 and periostin (P = 0.0144 and P = 0.001826, respectively).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We report a KO mouse strain with an LTBP2 mutation, demonstrating a valve phenotype, alongside a family with a novel mutation linked to MVP.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjopen\/oeae106","type":"journal-article","created":{"date-parts":[[2025,1,2]],"date-time":"2025-01-02T07:18:32Z","timestamp":1735802312000},"source":"Crossref","is-referenced-by-count":3,"title":["Characterization of LTBP2 mutation causing mitral valve prolapse"],"prefix":"10.1093","volume":"5","author":[{"given":"Shoshi","family":"Shpitzen","sequence":"first","affiliation":[{"name":"Department of Medicine, Cardiovascular Precision Medicine Center, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haim","family":"Rosen","sequence":"additional","affiliation":[{"name":"The Kuvin Center for the Study of Infectious and Tropical Diseases, Institute for Medical Research-Israel-Canada, Hebrew University\u2014Hadassah Medical School , 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4012-7789","authenticated-orcid":false,"given":"Ayal","family":"Ben-Zvi","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer Research, Hadassah\u2014Hebrew University Medical School , 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Meir","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galina","family":"Levin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amichay","family":"Gudgold","sequence":"additional","affiliation":[{"name":"Department of Medicine, Cardiovascular Precision Medicine Center, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9604-1939","authenticated-orcid":false,"given":"Shifra","family":"Ben Dor","sequence":"additional","affiliation":[{"name":"Department of Life Sciences Core Facilities, Weizmann Institute of Science , Herzl St 234, 7610001 Rehovot ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Haffner","sequence":"additional","affiliation":[{"name":"Department of Veterinary Resources, Weizmann Institute of Science , Herzl St 234, 7610001 Rehovot ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna R","family":"Zwas","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Leibowitz","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hadassah Hebrew University Medical Center , P.O. Box 12000, 9112001 Jerusalem ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan A","family":"Slaugenhaupt","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital Research Institute , 185 Cambridge Street, Boston, MA 02114 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyal","family":"Banin","sequence":"additional","affiliation":[{"name":"Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah Hebrew University Medical Center , P.O. 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