{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:02:35Z","timestamp":1777726955272,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100015226","name":"Shengjing Hospital of China Medical University","doi-asserted-by":"crossref","award":["MF100"],"award-info":[{"award-number":["MF100"]}],"id":[{"id":"10.13039\/501100015226","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the TSC1 and TSC2 gene exons were carried out to confirm the diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The results of MLPA were negative, but NGS showed a heterozygous mutation in the TSC1 gene comprising insertion of a T residue at c.2165 (exon 17) to c.2166 (exon 17), indicating a loss of function mutation. These results were verified by Sanger sequencing. This genetic change was present in the newborn but the parental genotypes were wild-type, indicating a de novo mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In this case, a case of TSC caused by a heterozygous mutation in the TSC1 gene was confirmed by NGS sequencing. This indicates the suitability of genetic testing for the early diagnosis of clinically rare and difficult-to-diagnose diseases, to guide clinical treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/03000605211035895","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T01:32:07Z","timestamp":1629941527000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation"],"prefix":"10.1177","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6040-2867","authenticated-orcid":false,"given":"Lin","family":"Qiao","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongmei","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"bibr1-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1515\/revneuro-2017-0027"},{"key":"bibr2-03000605211035895","first-page":"229","volume":"14","author":"Rabito MJ","year":"2014","journal-title":"Ochsner J"},{"key":"bibr3-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"bibr4-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.009"},{"key":"bibr5-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.08.010"},{"key":"bibr6-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2015-0321"},{"key":"bibr7-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.05.058"},{"key":"bibr8-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(94)00130-8"},{"key":"bibr9-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e04325"},{"key":"bibr10-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024919"},{"key":"bibr11-03000605211035895","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605211035895","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605211035895","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605211035895","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:48:14Z","timestamp":1777459694000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605211035895"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1177\/03000605211035895"],"URL":"https:\/\/doi.org\/10.1177\/03000605211035895","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8]]},"article-number":"03000605211035895"}}