{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T09:44:47Z","timestamp":1769161487208,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Pediatrics"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Chitayat syndrome (CHYTS, MIM #617180) is a rare autosomal dominant clinical condition caused by a single missense pathogenic variant in the <jats:italic>ERF<\/jats:italic> gene (19q13.2, MIM*611888), which encodes the ETS2 Repressor Factor (ERF) protein. The characteristic features reported to date for this condition are facial dysmorphism, hyperphalangism and respiratory complications during the newborn period. Herein, we report the sixth patient worldwide with a confirmed molecular diagnosis of CHYTS. Our documentation of pectus carinatum, hypoplastic phalanges (as in two previously described patients), and lack of hyperphalangism broadens the phenotypic spectrum of CHYTS. Moreover, our identification of a heterozygous mutation [c.266A&gt;G or p.(Tyr89Cys)] [rs886041001] in this patient provides further evidence that this condition is caused by a recurrent pathogenic variant in <jats:italic>ERF<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.60676","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T09:16:11Z","timestamp":1545297371000},"page":"118-122","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the <i>ERF<\/i> gene"],"prefix":"10.1002","volume":"179","author":[{"given":"Alan","family":"Caro\u2010Contreras","sequence":"first","affiliation":[{"name":"M\u00e9dico Residente de Gen\u00e9tica M\u00e9dica, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda  Ciudad de M\u00e9xico M\u00e9xico"},{"name":"Servicios Gen\u00f3micos Instituto Nacional de Medicina Gen\u00f3mica  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A.","family":"Alc\u00e1ntara\u2010Ortigoza","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan F.","family":"Ahumada\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"M\u00e9dico Residente de Gen\u00e9tica M\u00e9dica, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez\u2010del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104143"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37218"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450103"},{"key":"e_1_2_7_5_1","unstructured":"Davies\u2010Payne D. 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Retrieved fromhttp:\/\/software.ddp.org.nz\/bone-age\/."},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.6.4121"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36016"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195302122480702"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500214"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.04.013"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/508433"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2539"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0363-5023(88)90265-1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.60676","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.60676","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T11:22:39Z","timestamp":1694690559000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.60676"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,20]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/ajmg.a.60676"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.60676","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,20]]},"assertion":[{"value":"2018-07-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}