{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:22Z","timestamp":1774645762448,"version":"3.50.1"},"reference-count":39,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background\/Aims:&lt;\/i&gt;&lt;\/b&gt; We analyzed the vitamin D receptor &lt;i&gt;(VDR)&lt;\/i&gt; gene in 2 Greek patients who exhibited the classical features of hereditary vitamin D-resistant rickets (HVDRR) type II, including severe bone deformities and alopecia. We also describe the clinical phenotypes and the response to treatment of our patients. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Genomic DNA was extracted from peripheral blood samples of both patients. Coding region and flanking introns of &lt;i&gt;VDR&lt;\/i&gt; gDNA was amplified and direct sequenced. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; A unique cytosine to thymine (C&gt;T) transition was identified at nucleotide position 1066 (c.1066C&gt;T) in the ligand-binding domain of the &lt;i&gt;VDR&lt;\/i&gt; gene of both patients, predicting the substitution of a glutamine to a terminal codon at position 356 (Gln356stop). &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; The novel nonsense mutation c.1066C&gt;T (Gln356stop) is expected to result in a VDR protein 71 amino acids shorter and thus to affect the normal VDR function. In particular, the missing protein part alters the VDR heterodimerization with the retinoid X receptor which has been correlated with the presence of alopecia. Both patients were introduced to treatment with supraphysiological doses of 1\u03b1-calcidiol which improved their clinical phenotypes except for alopecia.<\/jats:p>","DOI":"10.1159\/000362618","type":"journal-article","created":{"date-parts":[[2014,7,23]],"date-time":"2014-07-23T06:53:11Z","timestamp":1406098391000},"page":"206-212","source":"Crossref","is-referenced-by-count":7,"title":["Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and 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