{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:17:00Z","timestamp":1782101820190,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,24]],"date-time":"2021-01-24T00:00:00Z","timestamp":1611446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009045","name":"Uniwersytet Jagiello\u0144ski Collegium Medicum","doi-asserted-by":"publisher","award":["K\/ZDS\/006278"],"award-info":[{"award-number":["K\/ZDS\/006278"]}],"id":[{"id":"10.13039\/100009045","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients\u2019 phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5. So far only two studies have reported the BDA2 cases caused by mutations in the BMPR1B gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We employed next\u2010generation sequencing to identify mutations in culpable genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and Conclusion<\/jats:title><jats:p>In this paper, we report a case of BDA2 resulting from the presence of a heterozygous c.1456C&gt;T, p.Arg486Trp variant in <jats:italic>BMPR1B<\/jats:italic>, which was previously associated with BDA2. The next generation sequencing analysis of the patients\u2019 family revealed that the mutation occurred <jats:italic>de novo<\/jats:italic> in the proband and was transmitted to his 26\u2010month\u2010old son. Although the same variant was confirmed in both patients, their phenotypes were different with more severe manifestation of the disease in the adult.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1594","type":"journal-article","created":{"date-parts":[[2021,1,24]],"date-time":"2021-01-24T08:24:45Z","timestamp":1611476685000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>BMPR1B<\/i> gene in brachydactyly type 2\u2013A family with <i>de novo<\/i> R486W mutation and a disease phenotype"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3882-4542","authenticated-orcid":false,"given":"Marcin","family":"Bednarek","sequence":"first","affiliation":[{"name":"2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland"},{"name":"University Hospital Krakow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2750-8608","authenticated-orcid":false,"given":"Marek","family":"Trybus","sequence":"additional","affiliation":[{"name":"2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland"},{"name":"University Hospital Krakow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-0557","authenticated-orcid":false,"given":"Monika","family":"Kolanowska","sequence":"additional","affiliation":[{"name":"Warsaw Genomics INC. Warszawa Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2635-0776","authenticated-orcid":false,"given":"Mateusz","family":"Koziej","sequence":"additional","affiliation":[{"name":"Department of Anatomy Jagiellonian University Medical College Krak\u00f3w Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2526-9714","authenticated-orcid":false,"given":"Beata","family":"Kiec\u2010Wilk","sequence":"additional","affiliation":[{"name":"2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland"},{"name":"Department of Metabolic Diseases Jagiellonian University Medical College Krakow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0279-1243","authenticated-orcid":false,"given":"Artur","family":"Dobosz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Jagiellonian University Medical College Krakow Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6703-1253","authenticated-orcid":false,"given":"Marta","family":"Kotlarek\u2010\u0141ysakowska","sequence":"additional","affiliation":[{"name":"Warsaw Genomics INC. 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