{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:40:20Z","timestamp":1762674020503},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T00:00:00Z","timestamp":1426464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the <jats:italic>BMPR1B<\/jats:italic> gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this article we report a family of Polish extraction with a novel mutation: c.1457G&gt;T (R486L) which segregated with a complex brachydactyly. Clinical and radiological data are presented and details of previously reported patients with a pathogenic change of an amino acid at position 486 of the <jats:italic>BMPR1B<\/jats:italic> gene are summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our data extends the previously known mutational and radiological spectrum associated with mutations in the <jats:italic>BMPR1B<\/jats:italic> gene and confirms the existence of a universal hotspot in the <jats:italic>BMPR1B<\/jats:italic> gene in this distinctive autosomal dominant brachydactyly disorder.<\/jats:p><jats:p>It is of interest that an affected female in the Polish family had a severe congenital malformation of the venous system in addition to her digital anomalies. This observation raises the possibility of disturbance of embryonic angiogenesis by specific mutations in <jats:italic>BMPR1B<\/jats:italic>. Birth Defects Research (Part A) 103:567\u2013572, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23354","type":"journal-article","created":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T10:08:13Z","timestamp":1426500493000},"page":"567-572","source":"Crossref","is-referenced-by-count":5,"title":["Novel mutation in the <i>BMPR1B<\/i> gene (R486L) in a polish family and further delineation of the phenotypic features of <i>BMPR1B<\/i>\u2010Related brachydactyly"],"prefix":"10.1002","volume":"103","author":[{"given":"Magdalena","family":"Badura\u2010Stronka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Pozna\u0144 Poland"},{"name":"Center for Medical Genetics GENESIS, Department of Research and Development Pozna\u0144 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Mr\u00f3z","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Pozna\u0144 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Beighton","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Faculty of Health Sciences University of Cape Town  South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"\u0141ukawiecki","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Laboratory of Hemodynamics Multidisciplinary Hospital Nowa S\u00f3l Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Wicher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Pozna\u0144 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Latos\u2010Biele\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Pozna\u0144 Poland"},{"name":"Center for Medical Genetics GENESIS, Department of Research and Development Pozna\u0144 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Koz\u0142owski","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging The Children's Hospital at Westmead Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,16]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1","volume-title":"Treasury of human inheritance","author":"Bell J","year":"1951"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.04.030"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023564"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mvr.2012.03.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2133476100"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201708"},{"key":"e_1_2_7_8_1","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","unstructured":"TemtamySA AglanMS. 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