{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T02:23:24Z","timestamp":1785378204490,"version":"3.55.0"},"reference-count":12,"publisher":"S. Karger AG","issue":"1","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":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly in the proband, with the aim of adding new aspects for obtaining a clear diagnosis. We performed array-comparative genomic hybridization and quantitative reverse transcriptase PCR (qRT-PCR) analyses. We identified a deletion of chromosome 20p12.1 involving the macrodomain containing 2\/mono-ADP ribosylhydrolase 2 gene (&lt;i&gt;MACROD2&lt;\/i&gt;) in several members of the family. This gene is actually not associated with a specific syndrome but with congenital anomalies of multiple organs. qRT-PCR showed higher levels of a &lt;i&gt;MACROD2&lt;\/i&gt; mRNA isoform in the individuals carrying the deletion. Our results, together with other data reported in the literature, support the hypothesis that the deletion in &lt;i&gt;MACROD2&lt;\/i&gt; can affect correct embryonic development and that the presence of another associated event, such as epigenetic modifications at the &lt;i&gt;MACROD2&lt;\/i&gt; locus, can influence the level of severity of the pathology.<\/jats:p>","DOI":"10.1159\/000499886","type":"journal-article","created":{"date-parts":[[2019,5,7]],"date-time":"2019-05-07T17:04:28Z","timestamp":1557248668000},"page":"25-31","source":"Crossref","is-referenced-by-count":20,"title":["Intragenic Deletion in &lt;b&gt;&lt;i&gt;MACROD2&lt;\/i&gt;&lt;\/b&gt;: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations"],"prefix":"10.1159","volume":"158","author":[{"given":"Barbara","family":"Lombardo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Iossa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Vitale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Verdesca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Perrotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Di Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Pastore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Franz\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,5,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq307"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0009401"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2015.58.9.317"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0000000000000052"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-18797"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2012.00115"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058503"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12773"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002464"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.06.2009.1994"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408650111"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499886","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499886","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:32:16Z","timestamp":1745425936000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000499886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,7,23]]},"published-print":{"date-parts":[[2019,7,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000499886","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}