{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T15:57:38Z","timestamp":1772207858262,"version":"3.50.1"},"reference-count":38,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T00:00:00Z","timestamp":1587427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research University Grant","award":["1001\/PPSP\/813066"],"award-info":[{"award-number":["1001\/PPSP\/813066"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0230982","type":"journal-article","created":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T16:28:18Z","timestamp":1587486498000},"page":"e0230982","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutations in the tail domain of MYH3 contributes to atrial septal defect"],"prefix":"10.1371","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5617-901X","authenticated-orcid":true,"given":"Sathiya","family":"Maran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robson","family":"Ee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siti Aisyah","family":"Faten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choi","family":"Sy Bing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kooi Yeong","family":"Khaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swee-Hua","family":"Erin Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kok-Song","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan Pauzi","family":"Wan Ibrahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohd Rizal","family":"Mohd Zain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kok Gan","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siew Hua","family":"Gan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huay Lin","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2020,4,21]]},"reference":[{"issue":"9932","key":"pone.0230982.ref001","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1016\/S0140-6736(13)62145-5","article-title":"Atrial septal defects","volume":"383","author":"T Geva","year":"2014","journal-title":"The Lancet"},{"issue":"12","key":"pone.0230982.ref002","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1007\/s00392-011-0355-7","article-title":"Frequency and spectrum of congenital heart defects among live births in Germany: a study of the Competence Network for Congenital Heart Defects","volume":"100","author":"G Schwedler","year":"2011","journal-title":"Clinical research in cardiology: official journal of the German Cardiac Society"},{"issue":"6","key":"pone.0230982.ref003","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.jpeds.2008.05.059","article-title":"Prevalence of congenital heart defects in metropolitan Atlanta, 1998\u20132005","volume":"153","author":"MD Reller","year":"2008","journal-title":"The Journal of pediatrics"},{"issue":"5","key":"pone.0230982.ref004","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.jpeds.2009.11.062","article-title":"Prevalence of congenital heart disease at live birth in Taiwan","volume":"156","author":"MH Wu","year":"2010","journal-title":"The Journal of pediatrics"},{"key":"pone.0230982.ref005","volume-title":"Textbook of Clinical Pediatrics. 1","author":"N Cory","year":"2012"},{"issue":"12","key":"pone.0230982.ref006","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1093\/eurheartj\/ehx633","article-title":"Atrial septal defects: even simple congenital heart diseases can be complicated","volume":"39","author":"DS Celermajer","year":"2018","journal-title":"European heart journal"},{"issue":"21","key":"pone.0230982.ref007","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis","volume":"58","author":"D van der Linde","year":"2011","journal-title":"Journal of the American College of Cardiology"},{"key":"pone.0230982.ref008","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.12659\/MSM.916052","article-title":"Analysis of NKX2-5 in 439 Chinese Patients with Sporadic Atrial Septal Defect","volume":"25","author":"H Wang","year":"2019","journal-title":"Med Sci Monit"},{"issue":"6","key":"pone.0230982.ref009","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/archdischild-2016-311143","article-title":"Ethnic and socioeconomic variation in incidence of congenital heart defects","volume":"102","author":"RL Knowles","year":"2017","journal-title":"Archives of Disease in Childhood"},{"issue":"4","key":"pone.0230982.ref010","first-page":"424","article-title":"Pattern of congenital heart disease and access to tertiary cardiac care in Malaysia","volume":"55","author":"LC Hung","year":"2000","journal-title":"The Medical journal of Malaysia"},{"issue":"1","key":"pone.0230982.ref011","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s12884-016-0841-z","article-title":"Increased prevalence of some birth defects in Korea, 2009\u20132010","volume":"16","author":"DK Lamichhane","year":"2016","journal-title":"BMC Pregnancy and Childbirth"},{"issue":"1","key":"pone.0230982.ref012","first-page":"7","article-title":"Prevalence and echocardiographic characteristics of common congenital heart disease in adult patients at Siriraj Hospital: 10-year study","volume":"98","author":"N Ratanasit","year":"2015","journal-title":"Journal of the Medical Association of Thailand = Chotmaihet thangphaet"},{"issue":"8","key":"pone.0230982.ref013","doi-asserted-by":"crossref","first-page":"e106806","DOI":"10.1371\/journal.pone.0106806","article-title":"Modelling survival and mortality risk to 15 years of age for a national cohort of children with serious congenital heart defects diagnosed in infancy","volume":"9","author":"RL Knowles","year":"2014","journal-title":"PloS one"},{"issue":"2","key":"pone.0230982.ref014","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/ije\/dyz009","article-title":"Global birth prevalence of congenital heart defects 1970\u20132017: updated systematic review and meta-analysis of 260 studies","volume":"48","author":"Y Liu","year":"2019","journal-title":"International Journal of Epidemiology"},{"issue":"2","key":"pone.0230982.ref015","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01435.x","article-title":"Genetic factors in non-syndromic congenital heart malformations","volume":"78","author":"MW Wessels","year":"2010","journal-title":"Clinical genetics"},{"issue":"6","key":"pone.0230982.ref016","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","article-title":"Genetics and Genomics of Congenital Heart Disease","volume":"120","author":"S Zaidi","year":"2017","journal-title":"Circulation Research"},{"issue":"18","key":"pone.0230982.ref017","doi-asserted-by":"crossref","first-page":"3955","DOI":"10.1242\/dev.059063","article-title":"Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart","volume":"138","author":"CS Rutland","year":"2011","journal-title":"Development (Cambridge, England)"},{"issue":"7","key":"pone.0230982.ref018","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1007\/s00018-012-1131-1","article-title":"Heavy and light roles: myosin in the morphogenesis of the heart","volume":"70","author":"J England","year":"2013","journal-title":"Cellular and molecular life sciences: CMLS"},{"issue":"5","key":"pone.0230982.ref019","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.ajhg.2015.04.004","article-title":"Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3","volume":"96","author":"JX Chong","year":"2015","journal-title":"American journal of human genetics"},{"issue":"1","key":"pone.0230982.ref020","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00401-012-1024-2","article-title":"Myosinopathies: pathology and mechanisms","volume":"125","author":"H Tajsharghi","year":"2013","journal-title":"Acta neuropathologica"},{"issue":"1","key":"pone.0230982.ref021","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s40001-018-0318-9","article-title":"Saliva samples as a source of DNA for high throughput genotyping: an acceptable and sufficient means in improvement of risk estimation throughout mammographic diagnostics","volume":"23","author":"UG Poehls","year":"2018","journal-title":"Eur J Med Res"},{"issue":"7","key":"pone.0230982.ref022","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/gepi.20410","article-title":"STrengthening the REporting of Genetic Association Studies (STREGA)\u2014an extension of the STROBE statement. Genetic Epidemiology","volume":"33","author":"J Little","year":"2009","journal-title":"The Official Publication of the International Genetic Epidemiology Society"},{"issue":"2","key":"pone.0230982.ref023","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"JC Barrett","year":"2005","journal-title":"Bioinformatics"},{"issue":"5576","key":"pone.0230982.ref024","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1126\/science.1069424","article-title":"The structure of haplotype blocks in the human genome","volume":"296","author":"SB Gabriel","year":"2002","journal-title":"Science"},{"issue":"1","key":"pone.0230982.ref025","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"JT den Dunnen","year":"2000","journal-title":"Human mutation"},{"issue":"9","key":"pone.0230982.ref026","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"F-O Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"issue":"23","key":"pone.0230982.ref027","doi-asserted-by":"crossref","first-page":"12559","DOI":"10.1073\/pnas.230441597","article-title":"Coevolution of head, neck, and tail domains of myosin heavy chains","volume":"97","author":"ED Korn","year":"2000","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"20","key":"pone.0230982.ref028","doi-asserted-by":"crossref","first-page":"4007","DOI":"10.1093\/hmg\/ddq315","article-title":"Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects","volume":"19","author":"JT Granados-Riveron","year":"2010","journal-title":"Human molecular genetics"},{"issue":"5","key":"pone.0230982.ref029","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/ng1775","article-title":"Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome","volume":"38","author":"RM Toydemir","year":"2006","journal-title":"Nature genetics"},{"issue":"4","key":"pone.0230982.ref030","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1002\/ana.10693","article-title":"Myosin storage myopathy associated with a heterozygous missense mutation in MYH7","volume":"54","author":"H Tajsharghi","year":"2003","journal-title":"Annals of neurology"},{"issue":"4","key":"pone.0230982.ref031","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/ng1526","article-title":"Mutation in myosin heavy chain 6 causes atrial septal defect","volume":"37","author":"YH Ching","year":"2005","journal-title":"Nature genetics"},{"issue":"5","key":"pone.0230982.ref032","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1261\/rna.876308","article-title":"Splicing regulation: from a parts list of regulatory elements to an integrated splicing code","volume":"14","author":"Z Wang","year":"2008","journal-title":"RNA"},{"issue":"8","key":"pone.0230982.ref033","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1001\/archneur.65.8.1083","article-title":"Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally","volume":"65","author":"H Tajsharghi","year":"2008","journal-title":"Archives of Neurology"},{"issue":"2","key":"pone.0230982.ref034","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1002\/ana.410440215","article-title":"Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles","volume":"44","author":"N Darin","year":"1998","journal-title":"Annals of neurology"},{"issue":"5","key":"pone.0230982.ref035","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1212\/WNL.58.5.780","article-title":"Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age","volume":"58","author":"H Tajsharghi","year":"2002","journal-title":"Neurology"},{"issue":"3","key":"pone.0230982.ref036","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1212\/01.WNL.0000150581.37514.30","article-title":"Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases","volume":"64","author":"NG Laing","year":"2005","journal-title":"Neurology"},{"issue":"4","key":"pone.0230982.ref037","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1086\/424760","article-title":"Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)","volume":"75","author":"C Meredith","year":"2004","journal-title":"American journal of human genetics"},{"issue":"11","key":"pone.0230982.ref038","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.2106\/JBJS.J.02004","article-title":"Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1","volume":"93","author":"DM Alvarado","year":"2011","journal-title":"The Journal of bone and joint surgery American volume"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0230982","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T16:28:58Z","timestamp":1587486538000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0230982"}},"subtitle":[],"editor":[{"given":"Mateusz K.","family":"Holda","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,4,21]]},"references-count":38,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4,21]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0230982","relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.17504\/protocols.io.bbjtiknn","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,21]]}}}