{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T16:24:23Z","timestamp":1775751863097,"version":"3.50.1"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2020,8,23]],"date-time":"2020-08-23T00:00:00Z","timestamp":1598140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81974014"],"award-info":[{"award-number":["81974014"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470452"],"award-info":[{"award-number":["81470452"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["30371571"],"award-info":[{"award-number":["30371571"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"International Cooperation Project of Shaanxi Science and Technology Department","award":["2019KW-072"],"award-info":[{"award-number":["2019KW-072"]}]},{"DOI":"10.13039\/501100008387","name":"Xi\u2019an Science and Technology Bureau","doi-asserted-by":"crossref","award":["201805098YX6SF32-5"],"award-info":[{"award-number":["201805098YX6SF32-5"]}],"id":[{"id":"10.13039\/501100008387","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>We report clinical and molecular analysis of an infant presenting with foetal bradycardia and clinical outcome of Jervell and Lange-Nielsen syndrome (JLNS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>Clinical, electrocardiogram (ECG), and echocardiographic data were collected from members in a three-generation family. Whole exomes were amplified and sequenced for proband. The identified variants were verified in the remaining members. The pathogenicity of candidate variants was predicted using multiple software programmes. A 28-year-old non-consanguineous Chinese woman at 23 weeks\u2019 gestation presenting with sustained foetal bradycardia of 100 b.p.m. Immunological disorders and infection were excluded. The infant was delivered at 37 weeks\u2019 gestation with 2700-g birthweight. QTc was prolonged in both ECG and Holter recording. Hearing tests confirmed bilateral sensorineural hearing loss. Genetic testing demonstrated that the infant carried a novel frameshift c.431delC (p.I145Sfs*92) and a novel nonsense c.1175G&amp;gt;A (p.W392X) compound variants of KCNQ1 inherited from mother and father, respectively, in autosomal recessive inheritance. Only relative II-5 carrying heterozygous KCNQ1-I145Sfs*92 variant had prolonged QTc, while the other carriers did not have prolonged QT, suggesting an autosomal dominant inheritance of LQT1 phenotype with incomplete penetrance in the family.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We report the novel frameshift KCNQ1-I145Sfs*92 and nonsense KCNQ1-W392X compound variants in autosomal recessive inheritance that caused JLNS presenting as sustained foetal bradycardia for the first time. Meanwhile, KCNQ1-I145Sfs*92 heterozygous variant demonstrated LQT1 phenotype in autosomal dominant inheritance with incomplete penetrance.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/europace\/euaa154","type":"journal-article","created":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T12:28:10Z","timestamp":1589632090000},"page":"1880-1884","source":"Crossref","is-referenced-by-count":6,"title":["The combined novel KCNQ1 frameshift I145Sfs*92 and nonsense W392X variants caused Jervell and Lange-Nielsen syndrome in a Chinese infant presenting with sustained foetal bradycardia"],"prefix":"10.1093","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7580-4693","authenticated-orcid":false,"given":"Yanmin","family":"Zhang","sequence":"first","affiliation":[{"name":"Shaanxi Institute for Pediatric Diseases, Xi\u2019an, China"},{"name":"Xi\u2019an Key Laboratory of Children\u2019s Health and Diseases, Xi\u2019an, China"},{"name":"Department of Cardiology, Xi\u2019an Children\u2019s Hospital, Affiliated Children\u2019s Hospital of Xi\u2019an Jiaotong University, 69 Xi Ju Yuan Xiang, Xi\u2019an 710003, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Electrocardiography, Northwest Women and Children\u2019s Hospital, Xi\u2019an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[{"name":"Shaanxi Institute for Pediatric Diseases, Xi\u2019an, China"},{"name":"Xi\u2019an Key Laboratory of Children\u2019s Health and Diseases, Xi\u2019an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Wang","sequence":"additional","affiliation":[{"name":"Shaanxi Institute for Pediatric Diseases, Xi\u2019an, China"},{"name":"Xi\u2019an Key Laboratory of Children\u2019s Health and Diseases, Xi\u2019an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinru","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Northwest Women and Children\u2019s Hospital, Xi\u2019an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengyun","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Ear-Nose-Throat, Xi\u2019an Children\u2019s Hospital, Affiliated Children\u2019s Hospital of Xi\u2019an Jiaotong University, Xi\u2019an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,8,23]]},"reference":[{"key":"2020122400301275400_euaa154-B1","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1093\/europace\/eus111","article-title":"Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in 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