{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T18:54:12Z","timestamp":1784055252247,"version":"3.55.0"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"CAMS Innovation Fund for Medical Sciences","award":["2016-I2M-1-002"],"award-info":[{"award-number":["2016-I2M-1-002"]}]},{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"publisher","award":["2016YFC1300100"],"award-info":[{"award-number":["2016YFC1300100"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600305"],"award-info":[{"award-number":["81600305"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005090","name":"Beijing Nova Program","doi-asserted-by":"publisher","award":["Z171100001117026"],"award-info":[{"award-number":["Z171100001117026"]}],"id":[{"id":"10.13039\/501100005090","id-type":"DOI","asserted-by":"publisher"}]},{"name":"PUMC Youth Fund and the Fundamental Research Funds for the Central Universities","award":["3332015205"],"award-info":[{"award-number":["3332015205"]}]},{"name":"PUMC Youth Fund and the Fundamental Research Funds for the Central Universities","award":["3332019134"],"award-info":[{"award-number":["3332019134"]}]},{"name":"PUMC Graduate Innovation Fund","award":["2018-1002-01-14"],"award-info":[{"award-number":["2018-1002-01-14"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a systematic review of epithelial sodium channel (ENaC)-gene-positive LS cases to conclude the clinical genetic features of LS in childhood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used to identify the predicted likely pathogenic variant. LS patients in this family were treated with amiloride. The Medline database was searched to summarize clinical features of pediatric LS cases whose age at genetic diagnosis was not more than 18 years.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>Genetic analysis identified a novel SCNN1G missense variant (c.1874C&amp;gt;T, p.Pro625Leu) in the proband with LS in childhood. In silico analysis revealed this heterozygous variant was highly conserved and deleterious. A total of 38 publications described pediatric LS associated with 25 pathogenic variants in SCNN1B and SCNN1G in 54 children. Despite the phenotypic heterogeneity, early-onset hypertension is the most common feature. All LS patients in this family or the reviewed cases showed significantly improvements in hypertension and hypokalemia after treatment with ENaC inhibitors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>This study identified a novel SCNN1G missense variant in a patient with pediatric LS, expanding the genetic spectrum of SCNN1G and demonstrating the PY motif of \u03b3-ENaC as a potential mutant region. Early identification and specific management of LS in children and adolescents are important to prevent the development of hypertensive end-organ disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajh\/hpaa037","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T12:21:51Z","timestamp":1583497311000},"page":"670-675","source":"Crossref","is-referenced-by-count":19,"title":["Pediatric Liddle Syndrome Caused by a Novel <i>SCNN1G<\/i> Variant in a Chinese Family and Characterized by Early-Onset Hypertension"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6261-9608","authenticated-orcid":false,"given":"Peng","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Cheng","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Graduate School, Peking Union Medical College and Chinese Academy of Medical Sciences , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Emergency and Critical Care, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun-Qi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Jun","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Xin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Emergency and Critical Care, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin-Ping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Min","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian-Liang","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,12]]},"reference":[{"key":"2024020716044390100_CIT0001","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1179\/2295333714Y.0000000092","article-title":"Management of hypertension in children and adolescents","volume":"70","author":"Bruyne","year":"2015","journal-title":"Acta Clin Belg"},{"key":"2024020716044390100_CIT0002","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3109\/08037051.2012.701790","article-title":"Prevalence and risk factors of hypertension based on repeated measurements in Chinese children and 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