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We mapped the locus of this atypical RRS and detected homozygous 8\u2010nucleotide deletion c.1353_1360del (p.(Met452Alafs*4)) in <jats:italic>ROR2<\/jats:italic>, the gene responsible for RRS1. We did not find any other variant shared by all affected individuals that could possibly act as a modifier of limb defect. Autopods are affected in RRS1, but severe autopod deficiency is not a characteristic feature. Over 30 biallelic variants dispersed throughout the gene are known in <jats:italic>ROR2<\/jats:italic>\u2010related RS, with no genotype\u2013phenotype correlation for specific RRS1 features. Considering together with the sporadic case homozygous for variant p.(Arg442*) and the case homozygous for p.(Arg441Thrfs*16) in a family where heterozygous members have brachydactyly type B1, we propose that homozygous truncating variants that originate at residues 441\u2013452 can cause severe autopod reduction anomalies, suggesting some genotype\u2013phenotype correlation for this particular phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.62514","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T18:23:33Z","timestamp":1632767013000},"page":"343-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A homozygous <scp><i>ROR2<\/i><\/scp> variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5563-9053","authenticated-orcid":false,"given":"Sajid","family":"Malik","sequence":"first","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6261-5244","authenticated-orcid":false,"given":"G\u00f6khan","family":"Nalbant","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Bioinformatics Institute of Health Sciences, Ac\u0131badem Mehmet Ali Aydinlar University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moqadsa","family":"Noreen","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Afzal","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0328-6046","authenticated-orcid":false,"given":"Asl\u0131han","family":"Tolun","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, MOBGAM Istanbul Technical University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1102-1"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61884"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37287"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.010"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33151"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-04-217851"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2007-0323"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61756"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31498"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980724)78:4<366::aid-ajmg12>3.0.co;2-g"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2015.319"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22156"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030647005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/303084"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp345"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105003"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.05.042"},{"issue":"3","key":"e_1_2_9_20_1","first-page":"i","article-title":"The genetics of hand malformations","volume":"14","author":"Temtamy S. 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