{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T04:20:05Z","timestamp":1781929205349,"version":"3.54.5"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,15]],"date-time":"2018-12-15T00:00:00Z","timestamp":1544832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007162","name":"Guangdong Science and Technology Department","doi-asserted-by":"publisher","award":["2015B050501004"],"award-info":[{"award-number":["2015B050501004"]}],"id":[{"id":"10.13039\/501100007162","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81402251, 81472521 and 81672676"],"award-info":[{"award-number":["81402251, 81472521 and 81672676"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2015A030313181"],"award-info":[{"award-number":["2015A030313181"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Head &amp; Neck"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gnathodiaphyseal dysplasia (GDD) is a rare skeletal disorder that has not been well studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sanger sequencing, whole\u2010genome sequencing (WGS), and bioinformatics and structural modeling analyses were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A family with patients with fibro\u2010osseous lesions of the jawbones were initially diagnosed with cherubism. Sequencing of <jats:italic>SH3BP2<\/jats:italic>, which is the causal gene of cherubism, revealed no pathogenic mutation. Through WGS, we identified a novel mutation c.1067G&gt;T (p.C356F) in <jats:italic>ANO5<\/jats:italic>, and bioinformatics analyses and structural modeling showed that the mutation was deleterious. Because <jats:italic>ANO5<\/jats:italic> is the gene responsible for GDD, we reappraised the clinical data of the patients, and the diagnosis was corrected to atypical GDD. A review of the literature showed that 67% of GDD cases confirmed by molecular testing were initially misdiagnosed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel mutation c.1067G&gt;T (p.C356F) in <jats:italic>ANO5<\/jats:italic> is responsible for the atypical GDD observed in our patients. GDD should be included in the differential diagnosis for patients with fibro\u2010osseous lesions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.25516","type":"journal-article","created":{"date-parts":[[2018,12,16]],"date-time":"2018-12-16T06:15:48Z","timestamp":1544940948000},"page":"230-238","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel <i>ANO5<\/i> mutation c.1067G&gt;T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia"],"prefix":"10.1002","volume":"41","author":[{"given":"Binghui","family":"Zeng","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Sun Yat\u2010Sen Memorial Hospital of Sun Yat\u2010Sen University  Guangzhou China"},{"name":"Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat\u2010Sen Memorial Hospital  Guangzhou China"},{"name":"Guanghua School of 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