{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T22:59:37Z","timestamp":1789253977457,"version":"build-2803163510"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,6,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0691_abs_001_w2aab3b7c36b1b6b1aab1c15b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the <jats:italic>CYP27B1<\/jats:italic>, which encodes vitamin D 1\u03b1-hydroxylase. We report the genetics and clinical manifestations of nine patients with VDDR-1A and compare our patients to other cases with the same mutations in the literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0691_abs_002_w2aab3b7c36b1b6b1aab1c15b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The clinical presentations, clinical and laboratory findings and treatment modalities of the patients were evaluated retrospectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0691_abs_003_w2aab3b7c36b1b6b1aab1c15b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The mean age of the patients at the time of diagnosis was 39.9\u00a0months (range: 4.5\u2013111). At the time of diagnosis, six patients had received stoss vitamin D therapy. Clinical findings related to rickets were obvious in seven patients and unclear in two patients. Except for one case, all patients had laboratory findings of rickets. A novel variant and four previously reported mutations in <jats:italic>CYP27B1<\/jats:italic> were identified. The mean calcitriol and elemental calcium dose were 45.5\u00a0ng\/kg\/day (range: 20\u201370) and 75.6\u00a0mg\/kg\/day (range: 45\u2013125), respectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0691_abs_004_w2aab3b7c36b1b6b1aab1c15b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We found a novel compound heterozygous mutation consisting of a reported duplication [(p.F443Pfs*24 (c.1319_1325 dup CCCACCC)] in exon 8 and a novel deletion [p.D507Efs*34 (c.1521 delC)] in exon 9. Our study suggests that the clinical manifestations and laboratory findings of the patients with VDDR1A are variable even among the patients with the same mutation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0691","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T20:42:49Z","timestamp":1617828169000},"page":"781-789","source":"Crossref","is-referenced-by-count":9,"title":["The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A"],"prefix":"10.1515","volume":"34","author":[{"given":"Ayse","family":"Ozden","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Erzurum Regional Training & Research Hospital , Erzurum , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"Doneray","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Ataturk University Faculty of Medicine , Erzurum , Turkey"},{"name":"Clinical Research Development and Design Application and Research Center, Ataturk University , Erzurum , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,4,7]]},"reference":[{"key":"2023040101193731839_j_jpem-2020-0691_ref_001_w2aab3b7c36b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Holick, MF. Vitamin D deficiency. N Engl J Med 2007;357:266\u201381. https:\/\/doi.org\/10.1056\/nejmra070553.","DOI":"10.1056\/NEJMra070553"},{"key":"2023040101193731839_j_jpem-2020-0691_ref_002_w2aab3b7c36b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Kim, CJ, Kaplan, LE, Perwad, F, Huang, N, Sharma, A, Choi, Y, et al.. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab 2007;92:3177\u201382. https:\/\/doi.org\/10.1210\/jc.2006-2664.","DOI":"10.1210\/jc.2006-2664"},{"key":"2023040101193731839_j_jpem-2020-0691_ref_003_w2aab3b7c36b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Miller, WL, Portale, AA. Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency. 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