{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T11:00:22Z","timestamp":1778670022898,"version":"3.51.4"},"reference-count":15,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T00:00:00Z","timestamp":1517875200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["www.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951117002980_abs1\" sec-type=\"general\"><jats:title>Background<\/jats:title><jats:p><jats:italic>SCN5A<\/jats:italic> encodes sodium-channel \u03b1-subunit Na<jats:sub>v<\/jats:sub>1.5. The mutations of <jats:italic>SCN5A<\/jats:italic> can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951117002980_abs2\" sec-type=\"methods\"><jats:title>Methods<\/jats:title><jats:p>Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951117002980_abs3\" sec-type=\"general\"><jats:title>Results and conclusions<\/jats:title><jats:p>A novel missense mutation in <jats:italic>SCN5A<\/jats:italic> (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na<jats:sup>+<\/jats:sup> current, further leading to channel protein dysfunction. Our study expands the spectrum of <jats:italic>SCN5A<\/jats:italic> mutations and contributes to genetic counselling of families with arrhythmia.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951117002980","type":"journal-article","created":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T01:44:59Z","timestamp":1517881499000},"page":"688-691","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":4,"title":["Whole-exome sequencing identifies a Novel <i>SCN5A<\/i> mutation (C335R) in a Chinese family with arrhythmia"],"prefix":"10.1017","volume":"28","author":[{"given":"Hao","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Bo","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Jing","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-qin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2018,2,6]]},"reference":[{"key":"S1047951117002980_ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21302"},{"key":"S1047951117002980_ref1","doi-asserted-by":"crossref","first-page":"120","DOI":"10.4097\/kjae.2017.70.2.120","article-title":"Intraoperative management of critical arrhythmia","volume":"70","author":"Kwon","year":"2017","journal-title":"Korean J Anesthesiol"},{"key":"S1047951117002980_ref7","doi-asserted-by":"publisher","DOI":"10.1038\/srep05616"},{"key":"S1047951117002980_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2011.07.014"},{"key":"S1047951117002980_ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.08.062"},{"key":"S1047951117002980_ref10","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.627489"},{"key":"S1047951117002980_ref4","doi-asserted-by":"publisher","DOI":"10.1038\/35059090"},{"key":"S1047951117002980_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2013.11.121"},{"key":"S1047951117002980_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.028"},{"key":"S1047951117002980_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcm.2008.01.002"},{"key":"S1047951117002980_ref12","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.acvd.2016.09.009","article-title":"Brugada syndrome: diagnosis, risk stratification and management","volume":"110","author":"Gourraud","year":"2017","journal-title":"Arch Cardiovasc Dis"},{"key":"S1047951117002980_ref13","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.113.300939"},{"key":"S1047951117002980_ref14","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.joa.2015.12.009","article-title":"Recent advances in genetic testing and counseling for inherited arrhythmias","volume":"32","author":"Mizusawa","year":"2016","journal-title":"J Arrhythm"},{"key":"S1047951117002980_ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-012-0303-y"},{"key":"S1047951117002980_ref5","doi-asserted-by":"publisher","DOI":"10.1111\/jce.12470"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951117002980","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,14]],"date-time":"2019-04-14T17:40:12Z","timestamp":1555263612000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951117002980\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,6]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1047951117002980"],"URL":"https:\/\/doi.org\/10.1017\/s1047951117002980","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,6]]},"assertion":[{"value":"\u00a9 Cambridge University Press 2018\u00a0","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}