{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:50:49Z","timestamp":1777438249726,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,11]],"date-time":"2020-08-11T00:00:00Z","timestamp":1597104000000},"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":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Short\u2010rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in <jats:italic>IFT81<\/jats:italic>, causing a short\u2010rib thoracic dysplasia, with, or without, polydactyly (SRTD19: OMIM 617895). IFT81 is a protein integral to the core of the intraflagellar transport complex B (IFT\u2010B), which is involved in anterograde transport in the cilium. We describe the case of a male infant with compound heterozygous variants in <jats:italic>IFT81<\/jats:italic>, who presented with short long bones, a narrow thorax, polydactyly, and multiple malformations. Three novel clinical features are reported including complete situs inversus, micropenis, and rectal atresia, which have not previously been associated with variants in <jats:italic>IFT81<\/jats:italic>. We reviewed the literature and identified the most consistent clinical features associated with this rare ciliopathy syndrome. We postulate that dolichocephaly and sagittal craniosynostosis may be associated with this condition, and provide a clue to considering <jats:italic>IFT81<\/jats:italic> as the causative gene when deciphering complex ciliopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.61781","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T05:46:38Z","timestamp":1597211198000},"page":"2403-2408","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expanding the phenotypic spectrum of <i>IFT81<\/i>: Associated ciliopathy syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1081-6965","authenticated-orcid":false,"given":"Tazeen","family":"Ashraf","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"},{"name":"Clinical Genetics Service, St Michael's hospital University Hospitals Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camelia","family":"Vaina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yeovil District Hospital NHS Foundation Trust  Yeovil Somerset UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Giri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes University Hospital Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3778-2945","authenticated-orcid":false,"given":"Christine P.","family":"Burren","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes University Hospital Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"James","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service, St Michael's hospital University Hospitals Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaka C.","family":"Offiah","sequence":"additional","affiliation":[{"name":"Department of Oncology and Metabolism University of Sheffield  Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Overton","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Baptista","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust  Exeter UK"},{"name":"Institute of Biomedical and Clinical Science, University of Exeter Medical School  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust  Exeter UK"},{"name":"Institute of Biomedical and Clinical Science, University of Exeter Medical School  Exeter UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah F.","family":"Smithson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service, St Michael's hospital University Hospitals Bristol NHS Foundation Trust  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,11]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"2483","article-title":"IFT81 as a candidate gene for nonsyndromic retinal degeneration","volume":"58","author":"Dharmat R.","year":"2017","journal-title":"Investigative Ophthalmology and Visual Science"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep34232"},{"key":"e_1_2_8_4_1","article-title":"ACGS best practice guidelines for variant classification in rare disease 2020","author":"Ellard S.","year":"2020","journal-title":"Association for Clinical Genomic Science"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02061"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm275"},{"key":"e_1_2_8_7_1","first-page":"103657","article-title":"Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd","volume":"23","author":"Fevre A.","year":"2019","journal-title":"European Journal of Medical Genetics"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201110049"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4843"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/10409238.2020.1768206"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102838"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23605"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.012"}],"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.61781","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61781","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61781","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61781","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T22:25:49Z","timestamp":1693952749000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61781"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,11]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/ajmg.a.61781"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61781","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,11]]},"assertion":[{"value":"2020-04-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}