{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T05:44:32Z","timestamp":1782625472224,"version":"3.54.5"},"reference-count":13,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2018,4,16]],"date-time":"2018-04-16T00:00:00Z","timestamp":1523836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Hand Surg Eur Vol"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation. The mutations identified, p.His1047Arg, p.His1047Leu, p.Glu545Lys, and p.Glu542Lys, are codons frequently mutated in cancers. Among all tissues tested, adipose had the highest mutation detection rate, followed by nerve and skin. Our results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation. Affected adipose, nerve and skin tissues are ideal for PIK3CA mutation analysis.<\/jats:p>","DOI":"10.1177\/1753193418770366","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T00:51:02Z","timestamp":1523926262000},"page":"756-760","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["An investigation of\n                    <i>PIK3CA<\/i>\n                    mutations in isolated macrodactyly"],"prefix":"10.1177","volume":"43","author":[{"given":"Jingheng","family":"Wu","sequence":"first","affiliation":[{"name":"Peking University Fourth School of Clinical Medicine; Hand Surgery Department of Beijing Jishuitan Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Tian","sequence":"additional","affiliation":[{"name":"Peking University Fourth School of Clinical Medicine; Spine Surgery Department of Beijing Jishuitan Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanglei","family":"Tian","sequence":"additional","affiliation":[{"name":"Peking University Fourth School of Clinical Medicine; Hand Surgery Department of Beijing Jishuitan Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelli","family":"Sumner","sequence":"additional","affiliation":[{"name":"ARUP Laboratories, Salt Lake City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas T.","family":"Hutchinson","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, University of Utah School of Medicine, Salt Lake City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Ji","sequence":"additional","affiliation":[{"name":"ARUP Laboratories, Salt Lake City, USA"},{"name":"Department of Pathology, School of Medicine, University of Utah, Salt Lake City, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,4,16]]},"reference":[{"key":"bibr1-1753193418770366","doi-asserted-by":"publisher","DOI":"10.7863\/ultra.33.7.1305"},{"key":"bibr2-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2013.08.095"},{"key":"bibr3-1753193418770366","volume-title":"The care of congenital hand anomalies","author":"Flatt AE","year":"1994","edition":"2"},{"key":"bibr4-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12819"},{"key":"bibr5-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-198805000-00011"},{"key":"bibr6-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36836"},{"key":"bibr7-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36552"},{"key":"bibr8-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(87)80219-8"},{"key":"bibr9-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"bibr10-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds440"},{"key":"bibr11-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1126\/science.1096502"},{"key":"bibr12-1753193418770366","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.02.002"},{"key":"bibr13-1753193418770366","first-page":"4","volume":"46","author":"Wu JH","year":"2008","journal-title":"Chin J Surg"}],"container-title":["Journal of Hand Surgery (European Volume)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1753193418770366","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1753193418770366","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1753193418770366","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:48:44Z","timestamp":1777502924000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1753193418770366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,16]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["10.1177\/1753193418770366"],"URL":"https:\/\/doi.org\/10.1177\/1753193418770366","relation":{},"ISSN":["1753-1934","2043-6289"],"issn-type":[{"value":"1753-1934","type":"print"},{"value":"2043-6289","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,16]]}}}