{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T22:59:36Z","timestamp":1789253976823,"version":"build-2803163510"},"reference-count":20,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<b><i>Background and Aims:<\/i><\/b> Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene <i>(CYP27B1)<\/i>. Mutations in <i>CYP27B1<\/i> disrupt or lead to a total loss of the 1-\u03b1-hydroxylase activity and require treatment with physiological doses of calcitriol. <b><i>Patients and Methods:<\/i><\/b> A genetic analysis of the <i>CYP27B1<\/i> gene was conducted in 22 Turkish patients with VDDR1 from 13 families. Presenting characteristics, biochemical features, treatment, and results from the genetic analysis are described. <b><i>Results:<\/i><\/b> A splice donor site mutation c.195 + 2T>G was found in 10 patients. The novel missense p.192K>E (c.574A>G) mutation was detected in 5 patients, and a novel missense p.197G>D (c.590G>A) mutation was found in 4 patients. A previously reported 7-bp duplication 1319-1325dupCCCACCC (Phe443Profs*24) in exon 8 was detected in 1 patient, and 1 patient was a compound heterozygote for the novel p.192K>E and the previously described 1319-1325dupCCCACCC mutations. A novel single base pair deletion, c.171_171delG, leading to a frameshift, was found in 1 patient. <b><i>Conclusions:<\/i><\/b> We identified 3 novel and 2 previously described mutations in the <i>CYP27B1<\/i> gene. A marked phenotypical diversity was observed between families that carried identical mutations, suggesting phenotypical heterogeneity.<\/jats:p>","DOI":"10.1159\/000444483","type":"journal-article","created":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T22:01:55Z","timestamp":1458252115000},"page":"309-317","source":"Crossref","is-referenced-by-count":28,"title":["Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I"],"prefix":"10.1159","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7846-9285","authenticated-orcid":false,"given":"Sophia","family":"Tahir","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"Demirbilek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Nuri","family":"Ozbek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riza Taner","family":"Baran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibel","family":"Tanriverdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,3,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pbiomolbio.2006.02.016"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2849209"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2011.54.2.51"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/mend.11.13.0035"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197310182891601"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm091"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt381"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04394.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1086\/302156"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsha.2012.11.003"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.4070\/kcj.2010.40.4.201"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951113002023"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444483","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444483","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444483","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:48:23Z","timestamp":1745430503000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000444483"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,6,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000444483","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}