{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:42:24Z","timestamp":1790430144909,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203141\/Z\/16\/Z"],"award-info":[{"award-number":["203141\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Only two families have been reported with biallelic\n                    <jats:italic>TMEM260<\/jats:italic>\n                    variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic\n                    <jats:italic>TMEM260<\/jats:italic>\n                    variants. Variants included one multi\u2010exon deletion, four nonsense\/frameshifts, two splicing changes and one missense change. Together with the published cases, analysis of clinical data revealed ventricular septal defects (12\/12), mostly secondary to truncus arteriosus (10\/12), elevated creatinine levels (6\/12), horse\u2010shoe kidneys (1\/12) and renal cysts (1\/12) in patients. Three pregnancies were terminated on detection of severe congenital anomalies. Six patients died between the ages of 6\u2009weeks and 5\u2009years. Using a range of stringencies, carrier frequency for SHDRA was estimated at 0.0007\u20130.007 across ancestries. In conclusion, this study confirms the genetic basis of SHDRA, expands its known mutational spectrum and clarifies its clinical features. We demonstrate that SHDRA is a severe condition associated with substantial mortality in early childhood and characterised by congenital cardiac malformations with a variable renal phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.14071","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T11:13:03Z","timestamp":1633691583000},"page":"127-133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Biallelic\n                    <scp>\n                      <i>TMEM260<\/i>\n                    <\/scp>\n                    variants cause truncus arteriosus, with or without renal defects"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7334-0602","authenticated-orcid":false,"given":"Alistair T.","family":"Pagnamenta","sequence":"first","affiliation":[{"name":"NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Jackson","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics University of Manchester  Manchester UK"},{"name":"Manchester Centre for Genomic Medicine, St. Mary's Hospital Manchester University NHS Foundation Trust, Health Innovation Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahat","family":"Perveen","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenda","family":"Beaman","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Petts","sequence":"additional","affiliation":[{"name":"Department of Paediatric Histopathology Royal Manchester Children's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asheeta","family":"Gupta","sequence":"additional","affiliation":[{"name":"Birmingham Children's Hospital  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zerin","family":"Hyder","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7044-5916","authenticated-orcid":false,"given":"Brian Hon\u2010Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine The University of Hong Kong  Pok Fu Lam Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita Sik\u2010Yau","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital  Pok Fu Lam Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ka Wang","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital  Pok Fu Lam Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelmina S.","family":"Kerstjens\u2010Frederikse","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin M.","family":"Abbott","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hadassah Medical Organization and Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny C.","family":"Taylor","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Banka","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics University of Manchester  Manchester UK"},{"name":"Manchester Centre for Genomic Medicine, St. Mary's Hospital Manchester University NHS Foundation Trust, Health Innovation Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asaf","family":"Ta\u2010Shma","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Hadassah Medical Organization and Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1260419"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.02.007"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0472-7"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12835"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102100"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.10.083"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg108"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa516"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61020"},{"key":"e_1_2_8_12_1","first-page":"104","article-title":"Townes\u2010brocks syndrome: report of three additional patients with previously undescribed renal and cardiac abnormalities","volume":"2","author":"Barakat AY","year":"1988","journal-title":"Dysmorphol Clin Genet"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg233"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14071","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14071","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T22:46:02Z","timestamp":1693176362000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,11]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1111\/cge.14071"],"URL":"https:\/\/doi.org\/10.1111\/cge.14071","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14071\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14071\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14071\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14071\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14071\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14071\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,11]]},"assertion":[{"value":"2021-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}