{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:13:46Z","timestamp":1780553626420,"version":"3.54.1"},"reference-count":12,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes. <b><i>Methods:<\/i><\/b> In this study, a girl with growth retardation is characterized using positional cloning and genome sequencing. The techniques include fluorescence in situ hybridization (FISH) with paint (WCP) and bacterial-artificial chromosomes (BAC) probes, PCR, real-time PCR, and short and long-read sequencing. <b><i>Results:<\/i><\/b> The translocation was identified by GTG banding and confirmed by WCP FISH. Microarray ruled out the involvement of other copy number variations except for 6 homozygous regions which are not disease-causing variants. Fine mapping with FISH showed split signals with BAC clone RP11-312A3. Genome sequencing of short-read with an average 30\u00d7 depth and long-read sequencing technology with a 3.8\u00d7 coverage identified both breakpoints, confirmed by Sanger sequencing, that showed microhomology. The breakpoint at 1p and 12p regions disrupted <i>EYA3<\/i> and <i>EFCAB4B<\/i> genes. Expression analysis of <i>EYA3<\/i> showed a 7-fold increase, suggesting the formation of a fusion gene with <i>EFCAB4B<\/i>. <i>EYA3<\/i> is involved in skeleton development, and <i>EFCAB4B<\/i> plays a role in calcium metabolism, which may be relevant for the patient\u2019s phenotype. <b><i>Conclusion:<\/i><\/b> The systematic application of genome techniques to translocations and their advantages is discussed. <\/jats:p>","DOI":"10.1159\/000522011","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T22:00:57Z","timestamp":1647468057000},"page":"370-380","source":"Crossref","is-referenced-by-count":5,"title":["Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <b><i>EYA3\/EFCAB4b<\/i><\/b>"],"prefix":"10.1159","volume":"13","author":[{"given":"Usha R.","family":"Dutta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amrita","family":"Bhattacherjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3298-6199","authenticated-orcid":false,"given":"Ashish","family":"Bahal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laxmi P.","family":"Posanapally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaisar A.","family":"Lone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7836-8479","authenticated-orcid":false,"given":"Siddardha","family":"Bathula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0101607"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.001"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000327"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.2.103"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2017.01.001"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22953"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000438812"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2045"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.88"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1144-9"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.05.010"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/522011","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/522011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:46:30Z","timestamp":1745423190000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000522011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000522011","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.19368041","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}