{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:30Z","timestamp":1747146150776,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubation in the intensive care setting. Rapid trio exome sequencing detected a novel homozygous likely pathogenic missense variant in the <jats:italic>ROR2<\/jats:italic> gene, NM_004560.3:c.950A&gt;G, p.(Tyr317Cys), for which both parents were heterozygous carriers. <jats:italic>In\u2010silico<\/jats:italic> protein modeling predicted a deleterious effect on the function of the protein. We report an extreme premature infant with novel homozygous likely pathogenic variant in the <jats:italic>ROR2<\/jats:italic> gene consistent with autosomal recessive Robinow syndrome. This case expands the phenotypic and genotypic spectrum of this disorder and highlights the benefit of performing rapid exome sequencing early during evaluation to aid in patient management and providing accurate genetic counseling to families.<\/jats:p>","DOI":"10.1002\/ajmg.a.62499","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T12:20:03Z","timestamp":1632486003000},"page":"298-303","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Robinow syndrome in an extremely preterm infant: Novel homozygous <scp><i>ROR2<\/i><\/scp> variant detected by rapid exome sequencing"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7814-4520","authenticated-orcid":false,"given":"Helen","family":"McDermott","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah K.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0713-4602","authenticated-orcid":false,"given":"Richard","family":"Caswell","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science University of Exeter Medical School  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1340-8203","authenticated-orcid":false,"given":"Harsha","family":"Gowda","sequence":"additional","affiliation":[{"name":"Birmingham Heartlands Neonatal Unit University Hospitals Birmingham NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8991-5036","authenticated-orcid":false,"given":"Amaka","family":"Offiah","sequence":"additional","affiliation":[{"name":"Department of Oncology and Metabolism University of Sheffield  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swati","family":"Naik","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0409-0"},{"volume-title":"Best practice guidelines for variant classification in rare disease","year":"2020","author":"Association for Clinical Genomic Science (ACGS)","key":"e_1_2_11_3_1"},{"volume-title":"GeneReviews\u00ae","year":"2005","author":"Bacino C. A.","key":"e_1_2_11_4_1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32530"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl266"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi259"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61986"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/73488"},{"key":"e_1_2_11_10_1","unstructured":"DECIPHER:https:\/\/www.deciphergenomics.org\/gene\/ROR2\/overview\/protein-genomic-info. Accessed September 14 2021."},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl189"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA120.012791"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000092471"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.784"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000319"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-019-0304-5"},{"key":"e_1_2_11_18_1","unstructured":"National Organisation for Rare Disorders:Robinow syndrome.https:\/\/rarediseases.org\/rare_diseases\/robinow_syndrome\/2021"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/73495"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.305"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/78113"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61908"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62499","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62499","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62499","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T19:05:48Z","timestamp":1692558348000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,24]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/ajmg.a.62499"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62499","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,9,24]]},"assertion":[{"value":"2021-05-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}