{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:33Z","timestamp":1790632593703,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["Process PQ10\/2011"],"award-info":[{"award-number":["Process PQ10\/2011"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in <jats:italic>PLCB4<\/jats:italic>, <jats:italic>GNAI3<\/jats:italic>, and <jats:italic>EDN1<\/jats:italic> have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter\u2010 and intra\u2010familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in <jats:italic>PLCB4<\/jats:italic>, <jats:italic>GNAI3<\/jats:italic>, and <jats:italic>EDN1<\/jats:italic> in patients with typical Auriculocondylar syndrome (n\u2009=\u20093), Pierre Robin sequence\u2010plus (n\u2009=\u20093), micrognathia with additional craniofacial malformations (n\u2009=\u20094), or non\u2010specific auricular dysplasia (n\u2009=\u20091), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in <jats:italic>PLCB4<\/jats:italic> only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38101","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"938-945","source":"Crossref","is-referenced-by-count":15,"title":["Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Vanessa L.","family":"Romanelli Tavares","sequence":"first","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas\u2010Tronco Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseli M.","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Cl\u00ednica Hospital de Reabilita\u00e7\u00e3o de Anomalias Craniofaciais Universidade de S\u00e3o Paulo (HRAC\u2010USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora R.","family":"Bertola","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas\u2010Tronco Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Instituto da Crian\u00e7a do Hospital das Cl\u00ednicas da Faculdade de Medicina da USP S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher T.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Congenital Malformations Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) U11163 Institut Imagine Paris France"},{"name":"Paris Descartes\u2010Sorbonne Paris Cit\u00e9 University Institut Imagine Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone G.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas\u2010Tronco Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto de Bioci\u00eancias Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella S. 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