{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:40:21Z","timestamp":1771670421566,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Andersen\u2013Tawil syndrome (<jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content>) is an inherited disease characterized by ventricular arrhythmias, periodic paralysis, and dysmorphic features. It results from a heterozygous mutation of <jats:italic><jats:styled-content style=\"fixed-case\">KCNJ2<\/jats:styled-content><\/jats:italic>, but little is known about mosaicism in <jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content>. We performed genetic analysis of <jats:italic><jats:styled-content style=\"fixed-case\">KCNJ2<\/jats:styled-content><\/jats:italic> in 32 <jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content> probands and their family members and identified <jats:italic><jats:styled-content style=\"fixed-case\">KCNJ2<\/jats:styled-content><\/jats:italic> mutations in 25 probands, 20 families who underwent extensive genetic testing. These tests revealed that seven probands carried <jats:italic>de novo<\/jats:italic> mutations while 13 carried inherited mutations from their parents. We then specifically assessed a single proband and the respective family. The proband was a 9 year old girl who fulfilled the <jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content> triad and carried an insertion mutation (p.75_76insThr). We determined that the proband's mother carried a somatic mosaicism and that the proband's younger brother also carried the <jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content> phenotype with the same insertion mutation. The mother, who exhibited mosaicism, was asymptomatic, although she exhibited Q(T)U prolongation. Mutant allele frequency was 11% as per <jats:styled-content style=\"fixed-case\">TA<\/jats:styled-content> cloning and 17.3% as per targeted deep sequencing. Our observations suggest that targeted deep sequencing is useful for the detection of mosaicism and that the detection of mosaic mutations in parents of apparently sporadic <jats:styled-content style=\"fixed-case\">ATS<\/jats:styled-content> patients can help in the process of genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.12357","type":"journal-article","created":{"date-parts":[[2014,2,7]],"date-time":"2014-02-07T14:18:50Z","timestamp":1391782730000},"page":"279-283","source":"Crossref","is-referenced-by-count":5,"title":["Mosaic <i><scp>KCNJ2<\/scp><\/i> mutation in Andersen\u2013Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism"],"prefix":"10.1111","volume":"87","author":[{"given":"K.","family":"Hasegawa","sequence":"first","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Shiga Japan"},{"name":"Department of Cardiovascular Biology and Medicine Niigata University School of Medical and Dental Sciences Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ohno","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Shiga Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Shiga Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Itoh","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Shiga Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Makiyama","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular and Medicine Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Pediatric Electrophysiology Osaka City General Hospital Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Shiga Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1971.tb06990.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350313"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9483"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.962316"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3424"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/148.4.1483"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg906"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.2.132"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000130666.81539.9E"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.09.011"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euq331"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12357","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T05:00:54Z","timestamp":1696309254000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,6]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1111\/cge.12357"],"URL":"https:\/\/doi.org\/10.1111\/cge.12357","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,6]]}}}