{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:13:45Z","timestamp":1791281625341,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T00:00:00Z","timestamp":1713744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniofacial microsomia (CFM), also known as the oculo\u2010auriculo\u2010vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12\u2010month\u2010old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C&gt;G, p.S238*) in <jats:italic>PUF60<\/jats:italic> was identified, which was predicted to be pathogenic in silico. <jats:italic>PUF60<\/jats:italic> has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of <jats:italic>PUF60<\/jats:italic> variants. Our findings expand the phenotypic range of <jats:italic>PUF60<\/jats:italic> variants that cover CFM and Verheij syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63631","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T13:39:22Z","timestamp":1713793162000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a de novo <i>PUF60<\/i> variant associated with craniofacial microsomia"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0329-2136","authenticated-orcid":false,"given":"Takuya","family":"Ogawa","sequence":"first","affiliation":[{"name":"Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyi","family":"Xue","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences  Tokyo Japan"},{"name":"Department of Pharmacology, School of Basic Medical Sciences, Beijing Key Laboratory of Metabolic Disturbance Related Cardiovascular Disease Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9660-6941","authenticated-orcid":false,"given":"Long","family":"Guo","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences  Tokyo Japan"},{"name":"Department of Laboratory Animal Science, School of Basic Medical Sciences Xi'an Jiaotong University  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maristela Sayuri","family":"Inoue\u2010Arai","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siulan","family":"Vendramini\u2010Pittoli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana Maria","family":"Candido\u2010Souza","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Tonello","sequence":"additional","affiliation":[{"name":"Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele Madeira","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terumi Okada","family":"Ozawa","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano Porto","family":"Peixoto","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Maria Cury Ferreira","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Department Speech Therapy, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Cell Signaling, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Moriyama","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0252-5452","authenticated-orcid":false,"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.60691"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.287"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38576"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01154-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034518795609"},{"key":"e_1_2_9_8_1","first-page":"276","article-title":"Oculoauriculovertebral spectrum: An updated critique","volume":"26","author":"Cohen M. M.","year":"1989","journal-title":"The Cleft Palate Journal"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.010"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80038-5"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.133"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62950"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/oso\/9780195118612.003.0019"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2017.1318927"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-22340-8"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.023"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.27"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-37703-6"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12965"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108219"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.05.006"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37411"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0421-3"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61816"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32574"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63631","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:24:59Z","timestamp":1728487499000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,22]]},"references-count":26,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63631"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63631","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,22]]},"assertion":[{"value":"2023-12-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63631"}}