{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:44:16Z","timestamp":1791477856578,"version":"4.3.4"},"reference-count":124,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RG\/19\/2\/34256"],"award-info":[{"award-number":["RG\/19\/2\/34256"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["PG\/05\/041"],"award-info":[{"award-number":["PG\/05\/041"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Strategic Positioning Fund on Genetic Orphan Diseases"},{"name":"Use-Inspired Basic Research"},{"DOI":"10.13039\/501100001348","name":"Agency for Science, Technology and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001348","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Branco Weiss Foundation and an EMBO Young Investigator"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs, as well as establishment of the left-right body axis. Germline mutations in the highly conserved PCP gene VANGL2 in humans have only been associated with central nervous system malformations, and functional testing to understand variant impact has not been performed. Here we report three new families with missense variants in VANGL2 associated with heterotaxy and congenital heart disease p.(Arg169His), non-syndromic hearing loss p.(Glu465Ala) and congenital heart disease with brain defects p.(Arg135Trp). To test the in vivo impact of these and previously described variants, we have established clinically-relevant assays using mRNA rescue of the vangl2 mutant zebrafish. We show that all variants disrupt Vangl2 function, although to different extents and depending on the developmental process. We also begin to identify that different VANGL2 missense variants may be haploinsufficient and discuss evidence in support of pathogenicity. Together, this study demonstrates that zebrafish present a suitable pipeline to investigate variants of unknown significance and suggests new avenues for investigation of the different developmental contexts of VANGL2 function that are clinically meaningful.<\/jats:p>","DOI":"10.1093\/hmg\/ddad171","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T17:01:30Z","timestamp":1696957290000},"page":"150-169","source":"Crossref","is-referenced-by-count":14,"title":["Functional analysis of germline <i>VANGL2<\/i> variants using rescue assays of <i>vangl2<\/i> knockout zebrafish"],"prefix":"10.1093","volume":"33","author":[{"given":"Christopher J","family":"Derrick","sequence":"first","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Szenker-Ravi","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), A*STAR , 60 Biopolis St, 138672 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Santos-Ledo","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlam","family":"Alqahtani","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirah","family":"Yusof","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), A*STAR , 60 Biopolis St, 138672 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Eley","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair H L","family":"Coleman","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumanty","family":"Tohari","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology, A*STAR , 61 Biopolis Dr, Proteos, 138673 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvin Yu-Jin","family":"Ng","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology, A*STAR , 61 Biopolis Dr, Proteos, 138673 , Singapore"},{"name":"MGI Tech Singapore Pte Ltd , 21 Biopolis Rd, 138567 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byrappa","family":"Venkatesh","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology, A*STAR , 61 Biopolis Dr, Proteos, 138673 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Essa","family":"Alharby","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases, Taibah University , 7534 Abdul Muhsin Ibn Abdul Aziz, Al Ihn, Al-Madinah al-Munawwarah 42318 , Saudi Arabia"},{"name":"Faculty of Applied Medical Sciences, Taibah University , Janadah Bin Umayyah Road, Tayba, Al-Madinah al-Munawwarah 42353 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"Mansard","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier , 163 Rue Auguste Broussonnet, 34090 Montpellier , France"},{"name":"Institute for Neurosciences of Montpellier (INM), University of Montpellier , Inserm, 80 Av. Augustin Fliche, 34000 Montpellier , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Noelle","family":"Bonnet-Dupeyron","sequence":"additional","affiliation":[{"name":"Department of Genetics, Valence Hospital's Center , 179 Bd Mar\u00e9chal Juin, 26000 Valence , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Francoise","family":"Roux","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier , 163 Rue Auguste Broussonnet, 34090 Montpellier , France"},{"name":"Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm , 80 Av. Augustin Fliche, 34000 Montpellier , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Vach\u00e9","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier , 163 Rue Auguste Broussonnet, 34090 Montpellier , France"},{"name":"Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm , 80 Av. Augustin Fliche, 34000 Montpellier , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Roume","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, CHI Poissy, St Germain-en-Laye , 10 Rue du Champ Gaillard, 78300 Poissy , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Bouvagnet","sequence":"additional","affiliation":[{"name":"CPDPN, H\u00f4pital MFME, CHU de Martinique , Fort de France, Fort-de-France 97261, Martinique , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naif A M","family":"Almontashiri","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases, Taibah University , 7534 Abdul Muhsin Ibn Abdul Aziz, Al Ihn, Al-Madinah al-Munawwarah 42318 , Saudi Arabia"},{"name":"Faculty of Applied Medical Sciences, Taibah University , Janadah Bin Umayyah Road, Tayba, Al-Madinah al-Munawwarah 42353 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J","family":"Henderson","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University, International Centre for Life , Central Parkway, Newcastle upon Tyne NE1 3BZ , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Reversade","sequence":"additional","affiliation":[{"name":"Genome Institute of Singapore (GIS), A*STAR , 60 Biopolis St, 138672 , Singapore"},{"name":"Institute of Molecular and Cell Biology, A*STAR , 61 Biopolis Dr, Proteos, 138673 , Singapore"},{"name":"Smart-Health Initiative, BESE , KAUST, Thuwal, 23955-6900 , Kingdom of Saudi Arabia"},{"name":"Medical Genetics Department, Ko\u00e7 Hospital Davutpa\u015fa Caddesi 34010 Topkap\u0131 Istanbul , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bill","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Biosciences 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