{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:43:29Z","timestamp":1787726609509,"version":"build-2784847793"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,4]],"date-time":"2016-04-04T00:00:00Z","timestamp":1459728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Development Program, Sir Ganga Ram Hospital"},{"name":"Department of Health Research (DHR)\/Indian Council of Medical Research (ICMR)","award":["DHR\/GIA\/8\/2014"],"award-info":[{"award-number":["DHR\/GIA\/8\/2014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in <jats:italic>KCNQ1<\/jats:italic>. Biallelic mutations with deafness is called Jervell and Lange\u2013Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano\u2013Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in <jats:italic>KCNQ1<\/jats:italic> in Indian patients with LQT1 syndrome. Forty patients with a clinical diagnosis of LQT1 syndrome were referred for molecular testing. Of these, 18 were excluded from the analysis as they did not fulfill the inclusion criteria of broad T wave ECG pattern of the study. Direct sequencing of <jats:italic>KCNQ1<\/jats:italic> was performed in 22 unrelated probands, parents and at\u2010risk family members. Mutations were identified in 17 patients, of which seven had heterozygous mutations and were excluded in this analysis. Biallelic mutations were identified in 10 patients. Five of 10 patients did not have deafness and were categorized as AR RWS, the rest being JLNS. Eight mutations identified in this study have not been reported in the literature and predicted to be pathogenic by in silico analysis. We hypothesize that the homozygous biallelic mutations identified in 67% of families was due to endogamous marriages in the absence of consanguinity. This study presents biallelic gene mutations in <jats:italic>KCNQ1<\/jats:italic> in Asian Indian patients with AR JLNS and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37636","type":"journal-article","created":{"date-parts":[[2016,4,4]],"date-time":"2016-04-04T05:33:24Z","timestamp":1459748004000},"page":"1510-1519","source":"Crossref","is-referenced-by-count":20,"title":["<i>KCNQ1<\/i> mutations associated with Jervell and Lange\u2013Nielsen syndrome and autosomal recessive Romano\u2013Ward syndrome in India\u2014expanding the spectrum of long QT syndrome type 1"],"prefix":"10.1002","volume":"170","author":[{"given":"Bijal","family":"Vyas","sequence":"first","affiliation":[{"name":"Centre of Medical Genetics Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratna D.","family":"Puri","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narayanan","family":"Namboodiri","sequence":"additional","affiliation":[{"name":"Department of Cardiology Sree Chitra Institute for Medical Sciences &amp; Technology Kerala India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohan","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Cardiology Holy Family Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Indian Institute of Technology Roorkee Roorkee Uttarakhand India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sireesha","family":"Movva","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shomu","family":"Bohora","sequence":"additional","affiliation":[{"name":"Department of Cardiology Baroda Heart Institute &amp; Research Centre Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeraj","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Vora","sequence":"additional","affiliation":[{"name":"Department of Cardiology Glenmark Cardiac Centre Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jatinder","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Indian Institute of Technology Roorkee Roorkee Uttarakhand India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarandeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Cardiology U N Mehta Institute of Cardiology &amp; Research Centre Gujarat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishwar C.","family":"Verma","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,4]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"AdzhubeiIA SchmidtS PeshkinL RamenskyVE GerasimovaA BorkP KondrashovAS SunyaevSR.2010. 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