{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T14:21:13Z","timestamp":1778509273630,"version":"3.51.4"},"reference-count":49,"publisher":"BMJ","issue":"7","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"FEDER funds through ISCIII","award":["PI20\/01053\/Instituto de Salud Carlos III"],"award-info":[{"award-number":["PI20\/01053\/Instituto de Salud Carlos III"]}]},{"name":"FEDER funds through ISCIII","award":["PMP21\/00063\/Instituto de Salud Carlos III"],"award-info":[{"award-number":["PMP21\/00063\/Instituto de Salud Carlos III"]}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["PID2019-105620RB-I00\/AEI\/10.13039\/501100011033"],"award-info":[{"award-number":["PID2019-105620RB-I00\/AEI\/10.13039\/501100011033"]}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["SAF2010-17901"],"award-info":[{"award-number":["SAF2010-17901"]}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["SAF2013-43365-R"],"award-info":[{"award-number":["SAF2013-43365-R"]}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["SAF2016-75434-R"],"award-info":[{"award-number":["SAF2016-75434-R"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,3,12]]},"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in <jats:italic>EVC<\/jats:italic> or <jats:italic>EVC2<\/jats:italic>. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main results<\/jats:title>\n                  <jats:p>We identified pathogenic variants in <jats:italic>EVC\/EVC2<\/jats:italic> in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in <jats:italic>WDR35<\/jats:italic> and a de novo heterozygous frameshift variant in <jats:italic>GLI3<\/jats:italic>, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel <jats:italic>EVC2<\/jats:italic> C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated \u2018classical EvC findings\u2019 in the literature and highlighted findings previously undescribed or rarely described as part of EvC.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the <jats:italic>EVC<\/jats:italic>\/<jats:italic>EVC2<\/jats:italic> mutational landscape and add <jats:italic>GLI3<\/jats:italic> to the list of genes associated with EvC-like phenotypes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109546","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T13:26:38Z","timestamp":1711459598000},"page":"633-644","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altunoglu","sequence":"first","affiliation":[{"name":"Medical Genetics Department, School of Medicine (KUSoM), Ko\u00e7 University, Istanbul, Turkey"},{"name":"Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian","family":"Palencia-Campos","sequence":"additional","affiliation":[{"name":"Consejo Superior de Investigaciones Cient\u00edficas-Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones Biom\u00e9dicas Alberto Sols, Madrid, Spain"},{"name":"CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gozde Tutku","family":"Turgut","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Nevado","sequence":"additional","affiliation":[{"name":"CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Valencia","sequence":"additional","affiliation":[{"name":"Consejo Superior de Investigaciones Cient\u00edficas-Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones Biom\u00e9dicas Alberto Sols, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asier","family":"Iturrate","sequence":"additional","affiliation":[{"name":"Consejo Superior de Investigaciones Cient\u00edficas-Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones Biom\u00e9dicas Alberto Sols, Madrid, Spain"},{"name":"CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada","family":"Otaify","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasha","family":"Elhossini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel","family":"Ashour","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmaa","family":"K. 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