{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T03:42:34Z","timestamp":1769571754305,"version":"3.49.0"},"reference-count":15,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features. There have only been 2 prior reports of mutations in &lt;i&gt;CCDC8&lt;\/i&gt; causing 3-M syndrome. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Two patients presenting with mild short stature underwent whole exome sequencing. The mutation was confirmed via Sanger sequencing. We compare the clinical characteristics of our 2 patients to patients previously reported with mutations in the same gene. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Exome sequencing identified a homozygous frameshift mutation in &lt;i&gt;CCDC8&lt;\/i&gt; in both patients. They presented with a much milder phenotype than previously described patients with the same mutation. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; In this study, we report a case of 2 sisters with relatively mild short stature who were found via exome sequencing to carry a previously reported homozygous mutation in &lt;i&gt;CCDC8&lt;\/i&gt;. These patients expand the anthropometric phenotype of 3-M syndrome and demonstrate the power of exome sequencing in the diagnosis of children with short stature. 3-M syndrome should be considered in children with mild skeletal abnormalities, normal\/high growth hormone-IGF axis parameters, and normal intelligence.<\/jats:p>","DOI":"10.1159\/000477907","type":"journal-article","created":{"date-parts":[[2017,7,4]],"date-time":"2017-07-04T21:01:32Z","timestamp":1499202092000},"page":"364-370","source":"Crossref","is-referenced-by-count":8,"title":["Two Siblings with a Mutation in &lt;b&gt;&lt;i&gt;CCDC8&lt;\/i&gt;&lt;\/b&gt; Presenting with Mild Short Stature: A Case of 3-M Syndrome"],"prefix":"10.1159","volume":"88","author":[{"given":"Lihong","family":"Liao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoong-Wei","family":"Gan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian","family":"Hwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehul","family":"Dattani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4890-0262","authenticated-orcid":false,"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,7,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.156"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00002"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000198926.01706.33"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1530\/JME-12-0034"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1628"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.200"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.021"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.028"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.12.051"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1506"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.114"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1098"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-39-21"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.07.055"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477907","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477907","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:34:01Z","timestamp":1745426041000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000477907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2017,11,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000477907","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}