{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T11:09:00Z","timestamp":1769166540036,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:00:00Z","timestamp":1593216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A&gt;G; p.(Tyr89Cys) in <jats:italic>ERF<\/jats:italic> on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic <jats:italic>ERF<\/jats:italic> variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventilation, and the remaining presenting with variable pulmonary phenotypes, including one individual without any obvious pulmonary manifestations. Our findings widen the phenotype spectrum caused by the recurrent pathogenic variant in <jats:italic>ERF<\/jats:italic>, underline Chitayat syndrome as a cause of isolated skeletal malformations and therefore contribute to the improvement of diagnostic strategies in individuals with hand hyperphalangism.<\/jats:p>","DOI":"10.1002\/ajmg.a.61735","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T15:54:56Z","timestamp":1593273296000},"page":"2068-2076","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2252-3497","authenticated-orcid":false,"given":"Aude\u2010Annick","family":"Suter","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1201-9118","authenticated-orcid":false,"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE) Hospital Universitario La Paz and CIBERER, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pernille Mathiesen","family":"Toerring","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Abad Perez","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosario","family":"Ramos\u2010Mejia","sequence":"additional","affiliation":[{"name":"Department of Growth and Development, Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE) Hospital Universitario La Paz and CIBERER, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Huckstadt","sequence":"additional","affiliation":[{"name":"Department of Genetics, Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Parr\u00f3n\u2010Pajares","sequence":"additional","affiliation":[{"name":"Department of Radiology and Skeletal dysplasia multidisciplinary Unit (UMDE) Hospital Universitario la Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin Atta","family":"Mensah","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Berlin Institute of Health (BIH)  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiebke","family":"H\u00fclsemann","sequence":"additional","affiliation":[{"name":"Handchirurgie Kinderkrankenhaus Wilhelmstift  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Holtgrewe","sequence":"additional","affiliation":[{"name":"Core Unit Bioinformatics \u2013 CUBI Berlin Institute of Health (BIH)  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"RG Development &amp; 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