{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:37:39Z","timestamp":1780447059248,"version":"3.54.1"},"reference-count":44,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T00:00:00Z","timestamp":1439856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["12GRNT11090001"],"award-info":[{"award-number":["12GRNT11090001"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["10FTF3920017"],"award-info":[{"award-number":["10FTF3920017"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1X01HL115006"],"award-info":[{"award-number":["1X01HL115006"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R01GM104390"],"award-info":[{"award-number":["R01GM104390"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R44HG006579"],"award-info":[{"award-number":["R44HG006579"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1ULTR001067"],"award-info":[{"award-number":["1ULTR001067"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U54HG006542"],"award-info":[{"award-number":["U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Wolff\u2013Parkinson\u2013White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, <jats:italic>PRKAG2<\/jats:italic>, which encodes the 5\u2032\u2010AMP\u2010activated protein kinase subunit \u03b3\u20102, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST\/pedigree VAAST) coupled with an ontology\u2010based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in <jats:italic>KCNE2<\/jats:italic> previously associated with Long QT syndrome was also identified. Of these 11 variants, only <jats:italic>MYH6<\/jats:italic> p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in <jats:italic>PRKAG2<\/jats:italic> or <jats:italic>MYH6<\/jats:italic>. <jats:italic>MYH6<\/jats:italic> variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37297","type":"journal-article","created":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T17:19:27Z","timestamp":1439918367000},"page":"2975-2984","source":"Crossref","is-referenced-by-count":18,"title":["Exome analysis of a family with Wolff\u2013Parkinson\u2013White syndrome identifies a novel disease locus"],"prefix":"10.1002","volume":"167","author":[{"given":"Neil E.","family":"Bowles","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanchau J.","family":"Jou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"},{"name":"Nora Eccles Cardiovascular Research and Training Institute Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cammon B.","family":"Arrington","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett J.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubree","family":"Earl","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norisada","family":"Matsunami","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay L.","family":"Meyers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan P.","family":"Etheridge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth V.","family":"Saarel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven B.","family":"Bleyl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"},{"name":"Clinical Genetics Institute Intermountain Healthcare Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Joseph","family":"Yost","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Anatomy University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Yandell","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Utah School of Medicine Salt Lake City Utah"},{"name":"USTAR Center for Genetic Discovery University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark F.","family":"Leppert","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Tristani\u2010Firouzi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology University of Utah School of Medicine Salt Lake City Utah"},{"name":"Nora Eccles Cardiovascular Research and Training Institute Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Gruber","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery University of Utah School of Medicine Salt Lake City Utah"},{"name":"Department of Cardiothoracic Surgery University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Baylor Hopkins Centers for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80728-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022950"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.961797"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2008.04.044"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/75556"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-7-r68"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI36154"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.104.507699"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2610"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.04.010"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0036"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200106143442403"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc5001.102111"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq315"},{"key":"e_1_2_6_19_1","first-page":"474","article-title":"Prevalence and course of Wolf\u2010Parkinson\u2010White syndrome in a population of 138,048 subjects","volume":"136","author":"Guize L","year":"1985","journal-title":"Ann Med Interne (Paris)"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.19.1.28"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0097-8485(99)00012-1"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.511"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.781"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21743"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2895"},{"key":"e_1_2_6_26_1","first-page":"6 14 11","article-title":"Using VAAST to identify disease\u2010associated variants in next\u2010generation sequencing data","volume":"81","author":"Kennedy B","year":"2014","journal-title":"Curr Protoc Hum Genet"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1893.sp000451"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1026"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(67)90254-9"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1304-5"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00671.x"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc0402.102990"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.017"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(69)90255-5"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.010"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(86)90003-3"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033878"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1542-474X.2006.00127.x"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.123158.111"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37297","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:29:17Z","timestamp":1696634957000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,18]]},"references-count":44,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37297"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37297","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,18]]}}}