{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T12:04:15Z","timestamp":1754481855616,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome\u201014, LQT14, OMIM # 616247) caused by a de novo <jats:italic>CALM1<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical data of the patient were collected, next\u2010generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 5\u2010year and 9\u2010month\u2010old girl was admitted to the hospital due to a syncopal episode. During the attack, the main symptoms were loss of consciousness, cyanosis of the face and lips, and weakness of limbs. The child had multiple seizures in the past, all of which occurred after emotional excitement and activity. She was diagnosed with epilepsy for more than 3\u2009years, but the effect of antiepileptic treatment was not satisfactory. The electrocardiogram was normal in the past. A month ago, convulsions occurred again after exercise, and the electrocardiogram showed QTc 496\u2009ms. The treadmill test showed a significant prolongation of QTc after exercise, and the genetic results suggested a new heterozygous variant of <jats:italic>CALM1<\/jats:italic>, c.395A&gt;G; p. (Asp132Gly). Consequently, she was diagnosed with LQT14 and treated with propranolol. During a follow\u2010up of 15\u2009months, there were no seizures or syncope.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This patient had multiple episodes of convulsions or syncope after emotional stimulation or activity, with intermittent prolongation of the QTc on routine ECG, marked prolongation of the QTc after exercise, and T\u2010wave alternans, which differed from the LQT14 phenotype caused by the previous CALM1 mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2287","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T07:56:10Z","timestamp":1698738970000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report of a child with long <scp>QT<\/scp> syndrome type 14 caused by <scp>CALM1<\/scp> gene mutation and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8564-0962","authenticated-orcid":false,"given":"Qiqing","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Cardiology Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Hospital of Beijing Children's Hospital  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenhua","family":"Xie","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Pediatric Inherited and Metabolic Diseases Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Hospital of Beijing Children's Hospital  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Hospital of Beijing Children's Hospital  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Guo","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Center of Rare Diseases, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochen","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Cardiology Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Hospital of Beijing Children's Hospital  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,31]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jce.15306"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001323"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/ja0397456"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022\u20102836(92)90324\u2010d"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.001216"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehz311"},{"key":"e_1_2_12_8_1","article-title":"Pathogenic variants in calmodulin associated with resuscitated childhood cardiac arrest (abstract C\u2010AB01\u201005)","volume":"14","author":"Daly A.","year":"2017","journal-title":"Heart Rhythm"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.07.091"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pace.14085"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2016.06.038"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/eht089"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.119.314629"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrcr.2016.09.004"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.119.002581"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi962149m"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:24:38Z","timestamp":1706531078000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,31]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2287"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2287","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2023,10,31]]},"assertion":[{"value":"2023-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2287"}}