{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:01:33Z","timestamp":1787500893592,"version":"build-2736575974"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001961","name":"AXA Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001961","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1038\/s41431-024-01698-5","type":"journal-article","created":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T06:02:08Z","timestamp":1727416928000},"page":"131-136","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum"],"prefix":"10.1038","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7064-0765","authenticated-orcid":false,"given":"V\u00e9ronique","family":"Pingault","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cilia","family":"Neiva-Vaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judite","family":"de Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Mart\u00ednez-Gil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaia","family":"Lasa-Aranzasti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4343-8331","authenticated-orcid":false,"given":"Berta","family":"Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2990-7154","authenticated-orcid":false,"given":"Inge M. M.","family":"Lakeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-3232","authenticated-orcid":false,"given":"Esther A. R.","family":"Nibbeling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6383-8201","authenticated-orcid":false,"given":"Radka","family":"Stoeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parul","family":"Jayakar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabib","family":"Dabir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda Zghal","family":"Elloumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanna","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5817-6330","authenticated-orcid":false,"given":"Sylvain","family":"Hanein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francoise","family":"Ochsenbein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8965-7171","authenticated-orcid":false,"given":"Pierre","family":"Blanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,27]]},"reference":[{"key":"1698_CR1","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmedgenet-2014-102476","volume":"51","author":"A Beleza-Meireles","year":"2014","unstructured":"Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 2014;51:635\u201345.","journal-title":"J Med Genet"},{"key":"1698_CR2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmedgenet-2021-108219","volume":"59","author":"A Tingaud-Sequeira","year":"2022","unstructured":"Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. J Med Genet. 2022;59:417\u201327.","journal-title":"J Med Genet"},{"key":"1698_CR3","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.32.6.453","volume":"32","author":"P Mastroiacovo","year":"1995","unstructured":"Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995;32:453\u20137.","journal-title":"J Med Genet"},{"key":"1698_CR4","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1038\/ejhg.2013.287","volume":"22","author":"I Barisic","year":"2014","unstructured":"Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet EJHG. 2014;22:1026\u201333.","journal-title":"Eur J Hum Genet EJHG"},{"key":"1698_CR5","doi-asserted-by":"crossref","first-page":"113528","DOI":"10.1016\/j.jpeds.2023.113528","volume":"261","author":"MA Thomas","year":"2023","unstructured":"Thomas MA, Bedard T, Crawford S, Grevers X, Lowry RB. Craniofacial microsomia, associated congenital anomalies, and risk factors in 63 cases from the Alberta congenital anomalies surveillance system. J Pediatr. 2023;261:113528.","journal-title":"J Pediatr"},{"key":"1698_CR6","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1002\/ajmg.a.61847","volume":"182","author":"AP Adam","year":"2020","unstructured":"Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. Am J Med Genet A. 2020;182:2646\u201361.","journal-title":"Am J Med Genet A"},{"key":"1698_CR7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.a.62989","volume":"191","author":"E Ranza","year":"2023","unstructured":"Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, et al. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. Am J Med Genet A janv. 2023;191:77\u201383.","journal-title":"Am J Med Genet A janv"},{"key":"1698_CR8","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/jmg-2022-108678","volume":"60","author":"T Celse","year":"2023","unstructured":"Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, et al. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. J Med Genet. 2023;60:620\u20136.","journal-title":"J Med Genet"},{"key":"1698_CR9","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-021-24852-9","volume":"12","author":"AT Timberlake","year":"2021","unstructured":"Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun. 2021;12:4680.","journal-title":"Nat Commun"},{"key":"1698_CR10","volume":"14","author":"K Mao","year":"2023","unstructured":"Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, et al. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023;14:2026.","journal-title":"Nat Commun"},{"key":"1698_CR11","first-page":"143","volume":"25","author":"D Quiat","year":"2023","unstructured":"Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, et al. Damaging variants in FOXI3 cause microtia and craniofacial microsomia. Genet Med J Am Coll Med Genet 2023;25:143\u201350.","journal-title":"Genet Med J Am Coll Med Genet"},{"key":"1698_CR12","unstructured":"Hennekam RC, Krantz ID, Allanson JE, Gorlin RJ Syndromes of the head and neck. 5. ed. Oxford: Oxford Univ. Press; 2010. 1452 p. (Oxford monographs on medical genetics)."},{"key":"1698_CR13","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1002\/ajmg.a.35923","volume":"161A","author":"H Risheg","year":"2013","unstructured":"Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, et al. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A 2013;161A:1110\u20136.","journal-title":"Am J Med Genet A"},{"key":"1698_CR14","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/j.bbagrm.2015.05.009","volume":"1849","author":"A Volk","year":"2015","unstructured":"Volk A, Crispino JD. The role of the chromatin assembly complex (CAF-1) and its p60 subunit (CHAF1b) in homeostasis and disease. Biochim Biophys Acta 2015;1849:979\u201386.","journal-title":"Biochim Biophys Acta"},{"key":"1698_CR15","volume":"381","author":"CP Liu","year":"2023","unstructured":"Liu CP, Yu Z, Xiong J, Hu J, Song A, Ding D, et al. Structural insights into histone binding and nucleosome assembly by chromatin assembly factor-1. Science. 2023;381:eadd8673.","journal-title":"Science"},{"key":"1698_CR16","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1016\/j.cell.2011.11.053","volume":"147","author":"S Nakano","year":"2011","unstructured":"Nakano S, Stillman B, Horvitz HR. Replication-coupled chromatin assembly generates a neuronal bilateral asymmetry in C. elegans. Cell. 2011;147:1525\u201336.","journal-title":"Cell"},{"key":"1698_CR17","doi-asserted-by":"crossref","first-page":"11099","DOI":"10.3390\/ijms231911099","volume":"23","author":"NA Gopinathan","year":"2022","unstructured":"Gopinathan NA, Rabas N, Lejon S, Homiski C, Osborne MJ, Cyr N, et al. Unorthodox PCNa binding by chromatin assembly factor 1. Int J Mol Sci. 2022;23:11099.","journal-title":"Int J Mol Sci"},{"key":"1698_CR18","doi-asserted-by":"crossref","first-page":"e181","DOI":"10.1371\/journal.pgen.0020181","volume":"2","author":"M Houlard","year":"2006","unstructured":"Houlard M, Berlivet S, Probst AV, Quivy JP, H\u00e9ry P, Almouzni G, et al. CAF-1 is essential for heterochromatin organization in pluripotent embryonic cells. PLoS Genet. 2006;2:e181.","journal-title":"PLoS Genet"},{"key":"1698_CR19","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1101\/gad.11.3.345","volume":"11","author":"PD Kaufman","year":"1997","unstructured":"Kaufman PD, Kobayashi R, Stillman B. Ultraviolet radiation sensitivity and reduction of telomeric silencing in Saccharomyces cerevisiae cells lacking chromatin assembly factor-I. Genes Dev. 1997;11:345\u201357.","journal-title":"Genes Dev"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01698-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01698-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01698-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T17:02:44Z","timestamp":1736355764000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01698-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,27]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["1698"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01698-5","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,27]]},"assertion":[{"value":"26 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 August 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 September 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"There is no competing interest. HZE is an employee of GeneDx, LLC, USA.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"These studies have been approved by institutional committees in each country when performed on a research basis. Ethical approvement was not required for case reports based on analysis performed in diagnostic conditions. Consent for publication of photos was obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}