{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T07:13:47Z","timestamp":1778397227978,"version":"3.51.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"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":[[2018]]},"abstract":"The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in <i>ACTB <\/i>have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, such as deafness, dystonia, and neutrophil dysfunction. We describe 2 different novel de novo missense <i>ACTB <\/i>mutations, c.208C>G (p.Pro70Ala) and c.511C>T (p.Leu171Phe), found by trio exome sequencing analysis of 2 unrelated patients: an 8-year-old boy with a suspected BRWS and a 4-year-old girl with unclear developmental disorder. The mutated residue in the first case is situated in the actin H-loop, which is involved in actin polymerization. The mutated residue in the second case (p.Leu171Phe) is found at the actin barbed end in the W-loop, important for binding to profilin and other actin-binding molecules. While the boy presented with a typical BRWS facial appearance, the girl showed facial features not recognizable as a BRWS gestalt as well as ventricular arrhythmia, cleft palate, thrombocytopenia, and gray matter heterotopia. We reviewed previously published <i>ACTB <\/i>missense mutations and ascertained that a number of them do not cause typical BRWS. By comparing clinical and molecular data, we speculate that the phenotypic differences found in <i>ACTB <\/i>missense mutation carriers might supposedly be dependent on the conformational change of <i>ACTB<\/i>.<\/jats:p>","DOI":"10.1159\/000492267","type":"journal-article","created":{"date-parts":[[2018,8,8]],"date-time":"2018-08-08T21:01:22Z","timestamp":1533762082000},"page":"259-265","source":"Crossref","is-referenced-by-count":17,"title":["Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review"],"prefix":"10.1159","volume":"9","author":[{"given":"Anna","family":"Sandestig","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon","family":"Jonasson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan","family":"Wahlstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Pepler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarina","family":"Ellnebo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Stefanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,8,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/9184265"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.006"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00003"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.130"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.005"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.460"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nature09372"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10319"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303689200"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/febs.13068"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22350"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/82_2016_45"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12492"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1126\/science.1059700"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2012.02.012"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086\/504271"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570308"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1091"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.95"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12864"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/492267","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/492267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:53:39Z","timestamp":1745427219000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000492267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019,1,31]]},"published-print":{"date-parts":[[2018,11,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000492267","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}