{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:51:53Z","timestamp":1790661113641,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,5,24]],"date-time":"2014-05-24T00:00:00Z","timestamp":1400889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>Robinow Syndrome (<jats:styled-content style=\"fixed-case\">RS<\/jats:styled-content>), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. Since the description of autosomal dominant Robinow Syndrome (<jats:styled-content style=\"fixed-case\">ADRS<\/jats:styled-content>; <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 180700) in 1969 by Meinhard Robinow and colleagues, the molecular etiology remained elusive until only recently. <jats:italic><jats:styled-content style=\"fixed-case\">WNT5A<\/jats:styled-content><\/jats:italic> was proposed to be the candidate gene for <jats:styled-content style=\"fixed-case\">ADRS<\/jats:styled-content>, as mutations were found in two affected families, one of those being the originally described index family. We report three families with <jats:styled-content style=\"fixed-case\">RS<\/jats:styled-content> caused by novel heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">WNT5A<\/jats:styled-content><\/jats:italic> mutations, which were confirmed in the first family by whole exome sequencing, and in all by Sanger sequencing. To our knowledge, this is the largest number of published families with <jats:styled-content style=\"fixed-case\">ADRS<\/jats:styled-content> in whom a <jats:italic><jats:styled-content style=\"fixed-case\">WNT5A<\/jats:styled-content><\/jats:italic> mutation was identified. Families 1 and 2 are the first cases showing <jats:italic>de novo<\/jats:italic> inheritance in the affected family members and thus strengthen the evidence for <jats:italic><jats:styled-content style=\"fixed-case\">WNT5A<\/jats:styled-content><\/jats:italic> as the causative gene in <jats:styled-content style=\"fixed-case\">ADRS<\/jats:styled-content>. Finally, we propose <jats:italic><jats:styled-content style=\"fixed-case\">WNT5A<\/jats:styled-content><\/jats:italic> mutation specificity in <jats:styled-content style=\"fixed-case\">ADRS<\/jats:styled-content>, which may affect interactions with other proteins in the Wnt pathway.<\/jats:p>","DOI":"10.1111\/cge.12401","type":"journal-article","created":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T13:01:59Z","timestamp":1397048519000},"page":"34-41","source":"Crossref","is-referenced-by-count":62,"title":["<i>De novo <scp>WNT5A<\/scp><\/i>\u2010associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype"],"prefix":"10.1111","volume":"87","author":[{"given":"M.","family":"Roifman","sequence":"first","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto ON Canada"},{"name":"Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.L.M.","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Paton","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Silver","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.L.","family":"Lohr","sequence":"additional","affiliation":[{"name":"Lillehei Heart Institute, University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.G.","family":"Yntema","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Venselaar","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department \u0130stanbul Medical Faculty, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"van Bon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Seaward","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.G.","family":"Brunner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Chitayat","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto ON Canada"},{"name":"Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children University of Toronto  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,24]]},"reference":[{"issue":"6","key":"e_1_2_7_2_1","first-page":"645","article-title":"A newly recognized dwarfism syndrome","volume":"117","author":"Robinow M","year":"1969","journal-title":"Am J Dis 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