{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T02:32:57Z","timestamp":1777343577416,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T00:00:00Z","timestamp":1473724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health","award":["RF 2010 2310935"],"award-info":[{"award-number":["RF 2010 2310935"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Microtia is a congenital defect affecting external ears, which appear smaller and sometimes malformed. Here we describe a five\u2010generation family with isolated bilateral microtia segregating as an autosomal dominant trait. Similar features have been previously observed in an autosomal dominant family with non\u2010syndromic microtia and hearing loss segregating with a <jats:italic><jats:styled-content style=\"fixed-case\">HOXA2<\/jats:styled-content><\/jats:italic> nonsense variant. <jats:italic><jats:styled-content style=\"fixed-case\">HOXA2<\/jats:styled-content><\/jats:italic> biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate. In our family, sequence analysis detected a heterozygous protein truncating nonsense variant [c.<jats:styled-content style=\"fixed-case\">670G<\/jats:styled-content>&gt;T, p.(Glu224*)] segregating in all affected individuals and absent in public databases. This study confirms the role of <jats:italic><jats:styled-content style=\"fixed-case\">HOXA2<\/jats:styled-content><\/jats:italic> gene in dominant isolated microtia and contribute to further define the dysmorphogenetic effect of this gene on ear development.<\/jats:p>","DOI":"10.1111\/cge.12845","type":"journal-article","created":{"date-parts":[[2016,8,9]],"date-time":"2016-08-09T08:02:30Z","timestamp":1470729750000},"page":"774-779","source":"Crossref","is-referenced-by-count":27,"title":["Identification of a second <i><scp>HOXA2<\/scp><\/i> nonsense mutation in a family with autosomal dominant non\u2010syndromic microtia and distinctive ear morphology"],"prefix":"10.1111","volume":"91","author":[{"given":"F.","family":"Piceci","sequence":"first","affiliation":[{"name":"Mendel Laboratory Casa Sollievo della Sofferenza Hospital, IRCCS  San Giovanni Rotondo 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