A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.

HomeCirculation: Genomic and Precision MedicineVol. 17, No. 1A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans No AccessResearch ArticleRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessResearch ArticleRequest AccessFull TextA Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans Jesse B.G. Hayesmoore, Michael Bowman, Nora Shannon, Edward Blair, Hugh Watkins and Kate L. Thomson Jesse B.G. HayesmooreJesse B.G. Hayesmoore Correspondence to: Jesse B.G. Hayesmoore, PhD, Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Old Rd, Headington, Oxford OX3 7LE, United Kingdom. Email E-mail Address: [email protected] https://orcid.org/0000-0003-3313-4219 Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.) , Michael BowmanMichael Bowman Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.) , Nora ShannonNora Shannon https://orcid.org/0000-0003-3150-7894 Clinical Genetics Service, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, United Kingdom (N.S.). , Edward BlairEdward Blair Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, United Kingdom (E.B.). , Hugh WatkinsHugh Watkins https://orcid.org/0000-0002-5287-9016 Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom (H.W.). and Kate L. ThomsonKate L. Thomson https://orcid.org/0000-0003-2807-3431 Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.) Originally published23 Jan 2024https://doi.org/10.1161/CIRCGEN.123.004134Circulation: Genomic and Precision Medicine. 2024;17FootnotesFor Sources of Funding and Disclosures, see page 48.Correspondence to: Jesse B.G. Hayesmoore, PhD, Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Old Rd, Headington, Oxford OX3 7LE, United Kingdom. Email jesse.hayesmoore@ouh.nhs.ukREFERENCES1. Glazier AA, Thompson A, Day SM. Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy.Pflugers Arch. 2019; 471:781–793. doi: 10.1007/s00424-018-2226-9CrossrefMedlineGoogle Scholar2. Helms AS, Davis FM, Coleman D, Bartolone SN, Glazier AA, Pagani F, Yob JM, Sadayappan S, Pedersen E, Lyons R, et al. Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.Circ Cardiovasc Genet. 2014; 7:434–443. doi: 10.1161/CIRCGENETICS.113.000448LinkGoogle Scholar3. Carrier L, Knöll R, Vignier N, Keller DI, Bausero P, Prudhon B, Isnard R, Ambroisine ML, Fiszman M, Ross J, et al. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice.Cardiovasc Res. 2004; 63:293–304. doi: 10.1016/j.cardiores.2004.04.009CrossrefMedlineGoogle Scholar4. Fiszman M, Prudhon B, Fromes Y. Myocardium-specific promoter.United States Patent Application Publication. 2004. US20040175699A1.Google Scholar5. Helms AS, Tang VT, O'Leary TS, Friedline S, Wauchope M, Arora A, Wasserman AH, Smith ED, Lee LM, Wen XW, et al. Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy.JCI Insight. 2020; 5:e133782. doi: 10.1172/jci.insight.133782CrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails February 2024Vol 17, Issue 1 Advertisement Article InformationMetrics © 2024 American Heart Association, Inc.https://doi.org/10.1161/CIRCGEN.123.004134PMID: 38258577 Originally publishedJanuary 23, 2024 Keywordscardiomyopathy, hypertrophicfibrosishaploinsufficiencyhumanssarcomeresPDF download Advertisement SubjectsGene Expression and RegulationGenetics