{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T09:43:18Z","timestamp":1792489398199,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T00:00:00Z","timestamp":1517356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Omodysplasia\u20102 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in <jats:italic>FZD2<\/jats:italic> encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second report on a heterozygous novel nonsense <jats:italic>FZD2<\/jats:italic> mutation in OMOD2 or Robinow syndrome\u2010like phenotype. The proband was a 16\u2010year\u2010old boy, who has been followed from infancy to adolescence. He presented with rhizomelic short stature with elbow restriction, mild facial dysmorphism (depressed broad bridge, short nose, anteverted nostrils, long philtrum, and low\u2010set ears), and genital hypoplasia. Radiological examination in infancy showed short, broad humeri with relatively narrow distal ends, mildly broad femora, thick proximal ulnae with hypoplastic, dislocated proximal radii, and short first metacarpals. The abnormal skeletal pattern was persistent in adolescence; however, the humeri and femora became less undermodeled, while the humeri and radii became mildly bowed. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640C&gt;A, p.S547*) in <jats:italic>FZD2<\/jats:italic>. The affected codon was next to the previously reported mutation (p.Trp548*). The results indicate that OMOD2 or Robinow syndome\u2010like phenotype can be caused by a heterozygous nonsense <jats:italic>FZD2<\/jats:italic> mutation impairing Wnt signaling. Further molecular studies will permit better clarification of the phenotypic spectrum in patients with OMOD2.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38623","type":"journal-article","created":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T15:46:44Z","timestamp":1517413604000},"page":"739-742","source":"Crossref","is-referenced-by-count":25,"title":["Nonsense mutations in <i>FZD2<\/i> cause autosomal\u2010dominant omodysplasia: Robinow syndrome\u2010like phenotypes"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-661X","authenticated-orcid":false,"given":"Keisuke","family":"Nagasaki","sequence":"first","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Intractable Disease Center Saitama Medical University Hospital Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Kikuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Saitama Medical University Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Nyuzuki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunao","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1807-59322007000400023"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.002"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-003-1064-9"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320321"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep04493"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22156"},{"key":"e_1_2_6_9_1","volume-title":"GeneReviews\u00ae","author":"Roifman M.","year":"2015"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv088"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/78113"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10555"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110530"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38623","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:18:30Z","timestamp":1695539910000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,31]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1002\/ajmg.a.38623"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38623","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,31]]}}}