{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T16:48:54Z","timestamp":1781801334968,"version":"3.54.5"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T00:00:00Z","timestamp":1423094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Cinque per mille dell'IRPEF- Finanziamento della ricerca sanitaria"},{"name":"Finanziamento Ricerca Corrente, Ministero Salute (contributo per la ricerca intramurale)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on the molecular characterization of a microdeletion of approximately 2.5\u2009Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative genomic hybridization, and whole genome re\u2010sequencing. Among the genes present in the deleted region, we focused our attention on the <jats:italic>FOXI3<\/jats:italic> gene. <jats:italic>Foxi3<\/jats:italic> is a member of the Foxi class of Forkhead transcription factors. In mouse, chicken and zebrafish <jats:italic>Foxi3<\/jats:italic> homologues are expressed in the ectoderm and endoderm giving rise to elements of the jaw as well as external, middle and inner ear. Homozygous <jats:italic>Foxi3\u2010\/\u2010<\/jats:italic> mice have recently been generated and show a complete absence of the inner, middle, and external ears as well as severe defects in the jaw and palate. Recently, a 7\u2010bp duplication within exon 1 of <jats:italic>FOXI3<\/jats:italic> that produces a frameshift and a premature stop codon was found in hairless dogs. Mild malformations of the outer auditory canal (closed ear canal) and ear lobe have also been noted in a fraction of <jats:italic>FOXI3<\/jats:italic> heterozygote Peruvian hairless dogs. Based on the phenotypes of <jats:italic>Foxi3<\/jats:italic> mutant animals, we propose that <jats:italic>FOXI3<\/jats:italic> may be responsible for the phenotypic features of our patient. Further characterization of the genomic region and the analysis of similar patients may help to demonstrate this point. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36895","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T04:09:09Z","timestamp":1423195749000},"page":"537-544","source":"Crossref","is-referenced-by-count":32,"title":["Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a <i>FOXI3<\/i> deletion"],"prefix":"10.1002","volume":"167","author":[{"given":"Elisa","family":"Tassano","sequence":"first","affiliation":[{"name":"Istituto Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics University of Bern 3001 Bern 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