{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T02:11:29Z","timestamp":1789438289581,"version":"build-2803163510"},"reference-count":70,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,8,10]],"date-time":"2006-08-10T00:00:00Z","timestamp":1155168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:p>Long QT syndrome (LQTS) is a rare and clinically heterogeneous inherited disorder characterized by a long QT interval on the electrocardiogram, increased risk of syncope and sudden death caused by arrhythmias. This syndrome is mostly caused by mutations in genes encoding various cardiac ion channels. The clinical heterogeneity is usually attributed to variable penetrance. One of the reasons for this variability in expression could be the coexistence of common single nucleotide polymorphisms (SNPs) on LQTS\u2010causing genes and\/or unknown genes. Some synonymous and nonsynonymous exonic SNPs identified in LQTS\u2010causing genes may have an effect on the cardiac repolarization process and modulate the clinical expression of a latent LQTS pathogenic mutation. We report the molecular pattern of 44 unrelated patients with LQTS using denaturing high\u2010performance liquid chromatography analysis of the <jats:italic>KCNQ1<\/jats:italic>, <jats:italic>KCNH2<\/jats:italic>, <jats:italic>SCN5A<\/jats:italic>, <jats:italic>KCNE1<\/jats:italic> and <jats:italic>KCNE2<\/jats:italic> genes. Forty\u2010five disease\u2010causing mutations (including 24 novel ones) were identified in this cohort. Most of our patients (84%) showed complex molecular pattern with one mutation (and even two for four patients) associated with several SNPs located in several LQTS genes.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00671.x","type":"journal-article","created":{"date-parts":[[2006,8,10]],"date-time":"2006-08-10T08:41:20Z","timestamp":1155199280000},"page":"214-227","source":"Crossref","is-referenced-by-count":89,"title":["Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome"],"prefix":"10.1111","volume":"70","author":[{"given":"G","family":"Millat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Chevalier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Restier\u2010Miron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Da Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Bouvagnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Kugener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Fayol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Gonz\u00e0lez Armengod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Oddou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Chanavat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Froidefond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Perraudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Rousson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Rodriguez\u2010Lafrasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,8,10]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11886-005-0088-1"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jelectrocard.2004.08.002"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2004.05.011"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201489"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01979-4"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(03)00342-0"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(03)00458-9"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00891.2003"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000161077.53751.e6"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.549071"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-003-0522-z"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000096652.14509.96"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2005.04.021"},{"key":"e_1_2_6_15_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1172\/JCI200316879","article-title":"A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation","volume":"111","author":"Viswanathan PC","year":"2003","journal-title":"J Clin Invest"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00117.2002"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2005.00182.x"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2002.123573"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2005.03.007"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.913"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1073569"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25618"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.10.1178"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.30.21063"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(99)00411-3"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:2<158::AID-HUMU9>3.0.CO;2-F"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1086\/302346"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2000.tb00178.x"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000144471.98080.CA"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2004.08.018"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.09.049"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2005.01.020"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2001.t01-3-00001.x"},{"key":"e_1_2_6_34_2","first-page":"1225","article-title":"Defective assembly and trafficking of mutant HERG channels with C\u2010terminal truncations in long QT syndrome","volume":"37","author":"Gong Q","year":"2004","journal-title":"J Mol Cell Cardiol"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2004.09.010"},{"key":"e_1_2_6_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-003-0504-1"},{"key":"e_1_2_6_37_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02423"},{"key":"e_1_2_6_38_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112375200"},{"key":"e_1_2_6_39_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.294.23.2975"},{"key":"e_1_2_6_40_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2004.062588"},{"key":"e_1_2_6_41_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.097386"},{"key":"e_1_2_6_42_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000052672.97759.36"},{"key":"e_1_2_6_43_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9136"},{"key":"e_1_2_6_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80728-X"},{"key":"e_1_2_6_45_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.180223197"},{"key":"e_1_2_6_46_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000014448.19052.4C"},{"key":"e_1_2_6_47_2","doi-asserted-by":"publisher","DOI":"10.4065\/78.12.1479"},{"key":"e_1_2_6_48_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-004-0595-3"},{"key":"e_1_2_6_49_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10131"},{"key":"e_1_2_6_50_2","doi-asserted-by":"publisher","DOI":"10.1089\/109065703322537287"},{"key":"e_1_2_6_51_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200007273430405"},{"key":"e_1_2_6_52_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06450-9"},{"key":"e_1_2_6_53_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.286.18.2264"},{"key":"e_1_2_6_54_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc3501.095361"},{"key":"e_1_2_6_55_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.96.9.2778"},{"key":"e_1_2_6_56_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(00)01124-4"},{"key":"e_1_2_6_57_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI27689"},{"key":"e_1_2_6_58_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.096578"},{"key":"e_1_2_6_59_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2004.080887"},{"key":"e_1_2_6_60_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.15.10113"},{"key":"e_1_2_6_61_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc3501.093815"},{"key":"e_1_2_6_62_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M206569200"},{"key":"e_1_2_6_63_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.570200"},{"key":"e_1_2_6_64_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1540-8167.2003.03339.x"},{"key":"e_1_2_6_65_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000125524.34234.13"},{"key":"e_1_2_6_66_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)00033-7"},{"key":"e_1_2_6_67_2","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s00246-002-0169-5","article-title":"Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene","volume":"24","author":"Miura M","year":"2003","journal-title":"Pediatr Cardiol"},{"key":"e_1_2_6_68_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.97.7.640"},{"key":"e_1_2_6_69_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2004.09.025"},{"key":"e_1_2_6_70_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.572453"},{"key":"e_1_2_6_71_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa022147"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2006.00671.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2006.00671.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:44:46Z","timestamp":1696895086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2006.00671.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,10]]},"references-count":70,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1399-0004.2006.00671.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00671.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,10]]}}}