{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T16:29:41Z","timestamp":1791131381491,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,4,1]],"date-time":"2015-04-01T00:00:00Z","timestamp":1427846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,2]],"date-time":"2015-10-02T00:00:00Z","timestamp":1443744000000},"content-version":"vor","delay-in-days":184,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1016\/j.ajhg.2015.02.010","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T15:46:14Z","timestamp":1427989574000},"page":"623-630","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":88,"title":["Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome"],"prefix":"10.1016","volume":"96","author":[{"given":"Kieran\u00a0J.","family":"Bunn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phil","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heleen\u00a0S.","family":"R\u00f6sken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam\u00a0C.","family":"O\u2019Neill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia\u00a0R.","family":"Cameron-Christie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han\u00a0G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeline","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henricus\u00a0P.M.","family":"Kunst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David\u00a0M.","family":"Markie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen\u00a0P.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2015.02.010_bib1","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ajmg.a.31592","article-title":"Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome","volume":"143","author":"Mazzeu","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2015.02.010_bib2","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/78107","article-title":"Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2","volume":"25","author":"Afzal","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib3","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/78113","article-title":"Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome","volume":"25","author":"van Bokhoven","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib4","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/dvdy.22156","article-title":"WNT5A mutations in patients with autosomal dominant Robinow syndrome","volume":"239","author":"Person","year":"2010","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2015.02.010_bib5","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/nrm3470","article-title":"The complex world of WNT receptor signalling","volume":"13","author":"Niehrs","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib6","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1086\/338450","article-title":"A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait","volume":"70","author":"Little","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib7","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1056\/NEJMoa013444","article-title":"High bone density due to a mutation in LDL-receptor-related protein 5","volume":"346","author":"Boyden","year":"2002","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2015.02.010_bib8","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmg.39.2.91","article-title":"Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease","volume":"39","author":"Balemans","year":"2002","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib9","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1086\/318811","article-title":"Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein","volume":"68","author":"Brunkow","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib10","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0092-8674(01)00571-2","article-title":"LDL receptor-related protein 5 (LRP5)\u00a0affects bone accrual and eye development","volume":"107","author":"Gong","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2015.02.010_bib11","doi-asserted-by":"crossref","first-page":"19489","DOI":"10.1074\/jbc.M110.190330","article-title":"Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function","volume":"286","author":"Leupin","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.02.010_bib12","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.bone.2013.01.014","article-title":"A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS)","volume":"53","author":"Boudin","year":"2013","journal-title":"Bone"},{"key":"10.1016\/j.ajhg.2015.02.010_bib13","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1083\/jcb.200201089","article-title":"Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor","volume":"157","author":"Kato","year":"2002","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib14","doi-asserted-by":"crossref","first-page":"5469","DOI":"10.1242\/dev.01405","article-title":"Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis","volume":"131","author":"Kokubu","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2015.02.010_bib15","doi-asserted-by":"crossref","first-page":"379","DOI":"10.2741\/4214","article-title":"Wnt and the Wnt signaling pathway in bone development and disease","volume":"19","author":"Wang","year":"2014","journal-title":"Front Biosci (Landmark Ed)"},{"key":"10.1016\/j.ajhg.2015.02.010_bib16","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.cellsig.2009.11.021","article-title":"Dishevelled: The hub of Wnt signaling","volume":"22","author":"Gao","year":"2010","journal-title":"Cell. Signal."},{"key":"10.1016\/j.ajhg.2015.02.010_bib17","doi-asserted-by":"crossref","first-page":"2638","DOI":"10.1002\/ajmg.a.36677","article-title":"An osteosclerotic form of Robinow syndrome","volume":"164A","author":"Bunn","year":"2014","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2015.02.010_bib18","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1001\/archoto.2011.1459","article-title":"Bilateral conductive hearing impairment with\u00a0hyperostosis of the temporal bone: a new finding in Robinow syndrome","volume":"138","author":"Eijkenboom","year":"2012","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"10.1016\/j.ajhg.2015.02.010_bib19","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1136\/jmg.23.4.350","article-title":"Robinow syndrome without mesomelic \u2018brachymelia\u2019: a report of five cases","volume":"23","author":"Bain","year":"1986","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib20","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1440-1673.2006.01668.x","article-title":"Robinow syndrome: report of two cases and review of the literature","volume":"51","author":"Al Kaissi","year":"2007","journal-title":"Australas. Radiol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib21","first-page":"1","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"11","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.ajhg.2015.02.010_bib22","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2015.02.010_bib23","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.ajhg.2015.02.010_bib24","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3389\/fgene.2012.00035","article-title":"Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift","volume":"3","author":"Cingolani","year":"2012","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib25","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2015.02.010_bib26","first-page":"531","article-title":"Protein identification and analysis tools in the ExPASy server","volume":"112","author":"Wilkins","year":"1999","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib27","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1534\/g3.112.005314","article-title":"Origin and evolution of dishevelled","volume":"3","author":"Dillman","year":"2013","journal-title":"G3 (Bethesda)."},{"key":"10.1016\/j.ajhg.2015.02.010_bib28","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/B978-0-12-394592-1.00007-7","article-title":"Dishevelled: in\u00a0vivo roles of a multifunctional gene family during development","volume":"101","author":"Wynshaw-Boris","year":"2012","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib29","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S0092-8674(00)80354-2","article-title":"Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1","volume":"90","author":"Lijam","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2015.02.010_bib30","doi-asserted-by":"crossref","first-page":"5827","DOI":"10.1242\/dev.00164","article-title":"Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure","volume":"129","author":"Hamblet","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2015.02.010_bib31","doi-asserted-by":"crossref","first-page":"e1000259","DOI":"10.1371\/journal.pgen.1000259","article-title":"Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development","volume":"4","author":"Etheridge","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib32","doi-asserted-by":"crossref","first-page":"9428","DOI":"10.1074\/jbc.M112.448480","article-title":"Functional consequences of Wnt-induced dishevelled 2 phosphorylation in canonical and noncanonical Wnt signaling","volume":"288","author":"Gonz\u00e1lez-Sancho","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.02.010_bib33","doi-asserted-by":"crossref","first-page":"11327","DOI":"10.1074\/jbc.M312389200","article-title":"NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1","volume":"279","author":"Miyazaki","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.02.010_bib34","doi-asserted-by":"crossref","first-page":"3903","DOI":"10.1128\/MCB.00251-12","article-title":"The E3 ubiquitin ligase ITCH negatively regulates canonical Wnt signaling by targeting dishevelled protein","volume":"32","author":"Wei","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib35","doi-asserted-by":"crossref","first-page":"8289","DOI":"10.1074\/jbc.M112.433185","article-title":"HECT domain-containing E3 ubiquitin ligase NEDD4L negatively regulates Wnt signaling by targeting dishevelled for proteasomal degradation","volume":"288","author":"Ding","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.02.010_bib36","doi-asserted-by":"crossref","first-page":"695","DOI":"10.3858\/emm.2009.41.10.076","article-title":"Negative feedback regulation of Wnt signaling by Gbetagamma-mediated reduction of Dishevelled","volume":"41","author":"Jung","year":"2009","journal-title":"Exp. Mol. Med."},{"key":"10.1016\/j.ajhg.2015.02.010_bib37","doi-asserted-by":"crossref","first-page":"e64","DOI":"10.1038\/oncsis.2013.28","article-title":"Deubiquitination of Dishevelled by Usp14 is required for Wnt signaling","volume":"2","author":"Jung","year":"2013","journal-title":"Oncogenesis"},{"key":"10.1016\/j.ajhg.2015.02.010_bib38","doi-asserted-by":"crossref","first-page":"e60865","DOI":"10.1371\/journal.pone.0060865","article-title":"IQGAP1 functions as a modulator of dishevelled nuclear localization in Wnt signaling","volume":"8","author":"Goto","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2015.02.010_bib39","doi-asserted-by":"crossref","first-page":"E812","DOI":"10.1073\/pnas.1114802109","article-title":"Wnt\/\u03b2-catenin signaling requires interaction of the Dishevelled DEP domain and C terminus with a discontinuous motif in Frizzled","volume":"109","author":"Tauriello","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2015.02.010_bib40","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.02.010_bib41","doi-asserted-by":"crossref","first-page":"19883","DOI":"10.1074\/jbc.M413274200","article-title":"Sclerostin binds to LRP5\/6 and antagonizes canonical Wnt signaling","volume":"280","author":"Li","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.02.010_bib42","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1128\/MCB.18.3.1248","article-title":"Two members of the Tcf family implicated in Wnt\/beta-catenin signaling during embryogenesis in the mouse","volume":"18","author":"Korinek","year":"1998","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib43","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1242\/jcs.02646","article-title":"The Wnt signalling effector Dishevelled forms dynamic protein assemblies rather than stable associations with cytoplasmic vesicles","volume":"118","author":"Schwarz-Romond","year":"2005","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2015.02.010_bib44","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/nsmb1247","article-title":"The DIX domain of Dishevelled confers Wnt signaling by dynamic polymerization","volume":"14","author":"Schwarz-Romond","year":"2007","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2015.02.010_bib45","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.devcel.2014.02.009","article-title":"Caspase-3 cleavage of dishevelled induces elimination of postsynaptic structures","volume":"28","author":"Wang","year":"2014","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2015.02.010_bib46","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0092-8674(02)00715-8","article-title":"Prickle mediates feedback amplification to generate asymmetric planar cell polarity signaling","volume":"109","author":"Tree","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2015.02.010_bib47","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1242\/bio.20148375","article-title":"Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a","volume":"3","author":"Liu","year":"2014","journal-title":"Biol. Open"},{"key":"10.1016\/j.ajhg.2015.02.010_bib48","doi-asserted-by":"crossref","first-page":"10396","DOI":"10.1074\/jbc.M110.169870","article-title":"Sequential activation and inactivation of Dishevelled in the Wnt\/beta-catenin pathway by casein kinases","volume":"286","author":"Bernatik","year":"2011","journal-title":"J.\u00a0Biol. Chem."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715000634?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715000634?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T20:40:11Z","timestamp":1747860011000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929715000634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":48,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["S0002929715000634"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.02.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}