{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T14:11:28Z","timestamp":1777644688200,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KO 4576\/1\u20102"],"award-info":[{"award-number":["KO 4576\/1\u20102"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KU 1240\/10\u20101"],"award-info":[{"award-number":["KU 1240\/10\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Robinow syndrome is a clinically and genetically heterogeneous disorder characterized by mesomelic limb shortening, distinctive facial features, and variable oral, cardiac, vertebral, and urogenital malformations. We identified the novel de novo splice acceptor mutation c.1715\u20102A\u2009&gt;\u2009C in <jats:italic>DVL3<\/jats:italic> in a 15\u2010year\u2010old female patient with typical features of Robinow syndrome. By studying <jats:italic>DVL3<\/jats:italic> transcripts in this patient, we confirmed expression of both wild\u2010type and mutant alleles. Mutant <jats:italic>DVL3<\/jats:italic> mRNAs were found to harbor a deletion of four nucleotides at the beginning of exon 15 and encode a protein product with a distinct \u22121 reading\u2010frame C\u2010terminus. The data demonstrate that mutant DVL3 proteins associated with Robinow syndrome show truncation of the C\u2010terminus and share 83 novel amino acid residues before the stop codon confirming highly specific <jats:italic>DVL3<\/jats:italic> alterations to be associated with this syndrome. The phenotype of the Robinow syndrome\u2010affected female reported here is typical as she shows mesomelia and mild hand anomalies as well as characteristic facial anomalies. She also exhibited a supraumbilical midline abdominal raphe which has not been observed in other patients with Robinow syndrome. In contrast to the clinical data of four previously reported individuals with <jats:italic>DVL3<\/jats:italic>\u2010related Robinow syndrome, short stature was not present in this individual at the age of 15 years. These findings expand the clinical spectrum of Robinow syndrome associated with <jats:italic>DVL3<\/jats:italic> mutations. To date, comparison of clinical data of <jats:italic>DVL3<\/jats:italic> mutation\u2010positive individuals with those of patients with genetically different forms did not allow delineation of gene\u2010specific phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.38635","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T03:36:53Z","timestamp":1522985813000},"page":"992-996","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Autosomal dominant Robinow syndrome associated with a novel <i>DVL3<\/i> splice mutation"],"prefix":"10.1002","volume":"176","author":[{"given":"Magdalena","family":"Danyel","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Medizinische Genetik und Humangenetik Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin Berlin 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