{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:30:22Z","timestamp":1745469022076,"version":"3.40.4"},"reference-count":17,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>Chromosome 1q42.12q42.2 deletions are documented as \u201cdisease causing\u201d and show overlapping phenotypes depending on the genes involved in the deletion. In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 region in a 4-year-old boy with hypoplastic corpus callosum, epilepsy, developmental delay, microcephaly, cataract, cleft palate, and skeletal changes. The deletion was de novo. Genotype-phenotype correlations suggest that the major features of 1q42.12q42.2 microdeletion were attributed to the genes with a high probability of loss-of-function intolerance score in this deletion, namely &lt;i&gt;LBR&lt;\/i&gt;,&lt;i&gt; ENAH&lt;\/i&gt;,&lt;i&gt; ACBD3&lt;\/i&gt;,&lt;i&gt; LIN9&lt;\/i&gt;,&lt;i&gt; ITPKB&lt;\/i&gt;,&lt;i&gt; CDC42BPA&lt;\/i&gt;,&lt;i&gt; ARF1&lt;\/i&gt;,&lt;i&gt; TAF5L&lt;\/i&gt;,&lt;i&gt; GALNT2&lt;\/i&gt;,&lt;i&gt; SPRTN&lt;\/i&gt;, and &lt;i&gt;EGLN1 &lt;\/i&gt;along with&lt;i&gt; GNPAT.&lt;\/i&gt;<\/jats:p>","DOI":"10.1159\/000496079","type":"journal-article","created":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T22:01:40Z","timestamp":1547589700000},"page":"161-166","source":"Crossref","is-referenced-by-count":1,"title":["1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum"],"prefix":"10.1159","volume":"10","author":[{"given":"Akella","family":"Radha Rama Devi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparna","family":"Ganapathy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashraf U.","family":"Mannan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shefali","family":"Sabharanjak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaik M.","family":"Naushad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,1,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36019"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711587"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2007.11.007"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33330"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38203"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.4161\/nucl.1.2.11113"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/s41065-016-0022-0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5615"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21623"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31025"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81092-2"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.4"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280215"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00028-10"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.10.002"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/srep42546"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:20:50Z","timestamp":1745428850000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000496079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":17,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,5,2]]},"published-print":{"date-parts":[[2019,5,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000496079","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2019]]}}}