{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:24:31Z","timestamp":1761719071470,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T00:00:00Z","timestamp":1626739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/501100001659","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":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the <jats:italic>BMPER<\/jats:italic> gene, which encodes the bone morphogenetic protein\u2010binding endothelial cell precursor\u2010derived regulator. The most prominent features of DSD are missing ossification of the axial skeleton, rib abnormalities and thoracic hypoplasia\/insufficiency, as well as intralobar nephrogenic rests within the kidneys.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on the case of a 22\u2010month\u2010old patient with DSD where trio\u2010exome sequencing was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic testing revealed a homozygous nonsense variant c.1577G&gt;A (p.Trp526*) in the <jats:italic>BMPER<\/jats:italic> gene, leading to a premature stop in protein translation. Both parents are asymptomatic carriers for the <jats:italic>BMPER<\/jats:italic> variant, which has not been described in the literature before.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings expand the genotypic and phenotypic spectrum of <jats:italic>BMPER<\/jats:italic> variants leading to DSD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1767","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T17:50:38Z","timestamp":1626803438000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expansion of the mutational spectrum of <i>BMPER<\/i> leading to diaphanospondylodysostosis and description of the associated disease process"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3601-2746","authenticated-orcid":false,"given":"Frederik","family":"Braun","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics Essen University Hospital Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9975-0092","authenticated-orcid":false,"given":"Andrea","family":"Gangfu\u00df","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Essen University Hospital Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"St\u00f6be","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of Tuebingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Schweiger","sequence":"additional","affiliation":[{"name":"Institute for Diagnostic and Interventional Radiology and Neuroradiology Essen University Hospital Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Essen University Hospital Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Essen University Hospital Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34240"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jss.2019.10.044"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.015"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30537"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.004"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10753-016-0490-4"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1368"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02647"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200808064"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2015.03.003"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0380-0"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38395"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-016-3725-5"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20097"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12285"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35352"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3182465b58"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31934"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000487969"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.116"}],"container-title":["Molecular Genetics &amp; 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