Gene Analysis of LBX1 Mutation, Tetralogy of Fallot,and Hypertrophic Cardiomyopathy Patient

Gene Analysis of LBX1 Mutation, Tetralogy of Fallot,and Hypertrophic Cardiomyopathy Patient | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Gene Analysis of LBX1 Mutation, Tetralogy of Fallot,and Hypertrophic Cardiomyopathy Patient Yong An, peiwen Cheng, Guozhen Wang, Yingzi Song This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4559242/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 30 Oct, 2024 Read the published version in Scientific Reports → Version 1 posted 10 You are reading this latest preprint version Abstract Background: Tetralogy of Fallot (TOF) and hypertrophic cardiomyopathy (HCM) are common types of congenital heart disease with unique pathophysiologic features. Mutations in LBX1, a key regulator of muscle precursor cell migration, may disrupt these critical developmental processes, resulting in severe developmental abnormalities. Case Presentation: This case reports on a 4-year-old girl diagnosed with both TOF and HCM. Genetic analysis revealed iUPI-F (uniparental disomy) on the entire chromosome 10, with a c.808G>A (p. Glu270Lys) pure mutation in the LBX1. Conclusion: This patient exhibited both TOF and HCM with mutations in the LBX1 gene, suggesting a potentially novel genetic link. This case study emphasizes the need for further studies on the function of the LBX1 gene in cardiac development and its potential impact on TOF and HCM. e LBX1 gene in cardiac development and its potential impact on TOF and HCM. Health sciences/Diseases/Cardiovascular diseases/Congenital heart defects Health sciences/Pathogenesis/Clinical genetics/Chromosome abnormality/Uniparental disomy LBX1 Tetralogy of Fallot hypertrophic cardiomyopathy Uniparental disomy Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Published Journal Publication published 30 Oct, 2024 Read the published version in Scientific Reports → Version 1 posted Editorial decision: Revision requested 30 Aug, 2024 Reviews received at journal 20 Aug, 2024 Reviews received at journal 09 Aug, 2024 Reviewers agreed at journal 08 Aug, 2024 Reviewers agreed at journal 08 Aug, 2024 Reviewers invited by journal 08 Aug, 2024 Editor assigned by journal 01 Jul, 2024 Editor invited by journal 19 Jun, 2024 Submission checks completed at journal 17 Jun, 2024 First submitted to journal 10 Jun, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4559242","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":321116457,"identity":"d896414b-6da5-479f-97e1-2268b98f9157","order_by":0,"name":"Yong An","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAwElEQVRIiWNgGAWjYBACNjiLvbHxwQdStEgw8BxuNpxBim0SDBLpbdIcxCjlk25++Jl3h10dv+TDBmkGBjs53QZCDpM5ZizNeyZZQnJ2YoNxAUOysdkBQlokchgkZ7YxSxjcTmxInsFwIHEbEVqYf85sq5ewv3mw4TAPkVrYJD62HZYwkGBsbCZSS5qZxce245IzziQ2M84wIMIv8jOSH99IbKvm528//vzHhwo7OYJa0IABacpHwSgYBaNgFOAAABPkPOe73OcVAAAAAElFTkSuQmCC","orcid":"","institution":"Children's Hospital of Chongqing Medical University","correspondingAuthor":true,"prefix":"","firstName":"Yong","middleName":"","lastName":"An","suffix":""},{"id":321116462,"identity":"6695813c-bdd7-403d-80d5-ce14606218a8","order_by":1,"name":"peiwen Cheng","email":"","orcid":"","institution":"Children's Hospital of Chongqing Medical University","correspondingAuthor":false,"prefix":"","firstName":"peiwen","middleName":"","lastName":"Cheng","suffix":""},{"id":321116465,"identity":"7edce5a9-ebc6-47e6-b4a3-bc5bfb56f048","order_by":2,"name":"Guozhen Wang","email":"","orcid":"","institution":"Children's Hospital of Chongqing Medical University","correspondingAuthor":false,"prefix":"","firstName":"Guozhen","middleName":"","lastName":"Wang","suffix":""},{"id":321116467,"identity":"9fbccc57-b289-4cbd-81e2-872af58d81f1","order_by":3,"name":"Yingzi Song","email":"","orcid":"","institution":"Children's Hospital of Chongqing Medical University","correspondingAuthor":false,"prefix":"","firstName":"Yingzi","middleName":"","lastName":"Song","suffix":""}],"badges":[],"createdAt":"2024-06-10 16:22:18","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-4559242/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4559242/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1038/s41598-024-77187-y","type":"published","date":"2024-10-30T16:12:59+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":68206667,"identity":"b8cca6e4-3628-441e-b23f-24bce1d74b72","added_by":"auto","created_at":"2024-11-04 16:33:13","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":639179,"visible":true,"origin":"","legend":"","description":"","filename":"GeneAnalysisofLBX1MutationTetralogyofFallotandHypertrophicCardiomyopathyPatientACaseReport.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4559242/v1_covered_40d22449-f4a1-4797-807b-e99a14d0756d.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"\u003cp\u003eGene Analysis of LBX1 Mutation, Tetralogy of Fallot,and Hypertrophic Cardiomyopathy Patient\u003c/p\u003e","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"scientific-reports","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"scirep","sideBox":"Learn more about [Scientific Reports](http://www.nature.com/srep/)","snPcode":"","submissionUrl":"","title":"Scientific Reports","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Scientific Reports","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"LBX1 , Tetralogy of Fallot, hypertrophic cardiomyopathy, Uniparental disomy","lastPublishedDoi":"10.21203/rs.3.rs-4559242/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4559242/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eBackground: Tetralogy of Fallot (TOF) and hypertrophic cardiomyopathy (HCM) are common types of congenital heart disease with unique pathophysiologic features. Mutations in LBX1, a key regulator of muscle precursor cell migration, may disrupt these critical developmental processes, resulting in severe developmental abnormalities.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eCase Presentation: This case reports on a 4-year-old girl diagnosed with both TOF and HCM. Genetic analysis revealed iUPI-F (uniparental disomy) on the entire chromosome 10, with a c.808G\u0026gt;A (p. Glu270Lys) pure mutation in the LBX1.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eConclusion: This patient exhibited both TOF and HCM with mutations in the LBX1 gene, suggesting a potentially novel genetic link. This case study emphasizes the need for further studies on the function of the LBX1 gene in cardiac development and its potential impact on TOF and HCM. e LBX1 gene in cardiac development and its potential impact on TOF and HCM.\u003c/p\u003e","manuscriptTitle":"Gene Analysis of LBX1 Mutation, Tetralogy of Fallot,and Hypertrophic Cardiomyopathy Patient","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-07-03 06:44:47","doi":"10.21203/rs.3.rs-4559242/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2024-08-30T12:33:32+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-08-20T21:40:09+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-08-10T00:42:33+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"37537049869501074423379816287458891519","date":"2024-08-08T13:10:30+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"9535936199656679195109350591644512907","date":"2024-08-08T13:00:28+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2024-08-08T12:57:57+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2024-07-01T09:37:33+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2024-06-19T06:57:20+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2024-06-17T06:44:16+00:00","index":"","fulltext":""},{"type":"submitted","content":"Scientific Reports","date":"2024-06-10T16:20:59+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"scientific-reports","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"scirep","sideBox":"Learn more about [Scientific Reports](http://www.nature.com/srep/)","snPcode":"","submissionUrl":"","title":"Scientific Reports","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Scientific Reports","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"f452423e-b06c-4368-b578-5dbe05976ff6","owner":[],"postedDate":"July 3rd, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":34052805,"name":"Health sciences/Diseases/Cardiovascular diseases/Congenital heart defects"},{"id":34052806,"name":"Health sciences/Pathogenesis/Clinical genetics/Chromosome abnormality/Uniparental disomy"}],"tags":[],"updatedAt":"2024-11-04T16:22:21+00:00","versionOfRecord":{"articleIdentity":"rs-4559242","link":"https://doi.org/10.1038/s41598-024-77187-y","journal":{"identity":"scientific-reports","isVorOnly":false,"title":"Scientific Reports"},"publishedOn":"2024-10-30 16:12:59","publishedOnDateReadable":"October 30th, 2024"},"versionCreatedAt":"2024-07-03 06:44:47","video":"","vorDoi":"10.1038/s41598-024-77187-y","vorDoiUrl":"https://doi.org/10.1038/s41598-024-77187-y","workflowStages":[]},"version":"v1","identity":"rs-4559242","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4559242","identity":"rs-4559242","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}