{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:43:34Z","timestamp":1740141814817,"version":"3.37.3"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T00:00:00Z","timestamp":1716508800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 29-year-old female, born to consanguineous parents, was found with unmeasurable levels of vitamin D (&amp;lt;10\u2005nmol\/L) after routine biochemical screening during her first pregnancy. She did not respond to either oral or intramuscular vitamin D supplementation and was an otherwise healthy young woman, with no signs of rickets, osteomalacia, osteoporosis, or secondary hyperparathyroidism. Western blot analysis revealed total lack of vitamin D binding protein, and next generation sequencing confirmed a novel, pathogenic homozygote loss-of-function mutation in exon 13 of the group-specific component gene, that encodes the poly A tail for vitamin D binding protein. She was therefore diagnosed with hereditary DBP deficiency, and vitamin D supplementation was diminished to life-long regular vitamin D supplementation (25\u2005\u03bcg per day). This case is extremely interesting, as it expands our knowledge of vitamin D physiology and supports the free hormone hypothesis, given that the patient was asymptomatic despite no measurable levels of vitamin D.<\/jats:p>","DOI":"10.1093\/ejendo\/lvae061","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T20:41:25Z","timestamp":1716583285000},"page":"K53-K56","source":"Crossref","is-referenced-by-count":0,"title":["Unmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene"],"prefix":"10.1093","volume":"190","author":[{"given":"Rie Harboe","family":"Nygaard","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry, Aarhus University Hospital , 8200 Aarhus , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4517-1674","authenticated-orcid":false,"given":"Esben Stistrup","family":"Lauritzen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus , Denmark"},{"name":"Department of Internal Medicine, Horsens Regional Hospital , 8700 Horsens , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanja","family":"Sikj\u00e6r","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus , Denmark"},{"name":"Department of Internal Medicine, Horsens Regional Hospital , 8700 Horsens , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten Schriver","family":"H\u00f8jskov","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Aarhus University Hospital , 8200 Aarhus , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2152-4247","authenticated-orcid":false,"given":"Lars","family":"Rejnmark","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger Jon","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Aarhus University Hospital , 8200 Aarhus , Denmark"},{"name":"Department of Clinical Medicine, Aarhus University , 8200 Aarhus , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,5,24]]},"reference":[{"issue":"2","key":"2024062815223630600_lvae061-B1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s12016-013-8361-3","article-title":"The implication of vitamin D and autoimmunity: a comprehensive review","volume":"45","author":"Yang","year":"2013","journal-title":"Clin Rev Allergy Immunol"},{"issue":"1","key":"2024062815223630600_lvae061-B2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1600-0625.2010.01202.x","article-title":"Vitamin D: an ancient hormone","volume":"20","author":"Bikle","year":"2011","journal-title":"Exp Dermatol"},{"key":"2024062815223630600_lvae061-B3","doi-asserted-by":"crossref","first-page":"910","DOI":"10.3389\/fendo.2019.00910","article-title":"Vitamin D binding protein: a historic overview","volume":"10","author":"Bouillon","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"3","key":"2024062815223630600_lvae061-B4","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1172\/JCI110072","article-title":"Influence of the vitamin D-binding protein on the serum concentration of 1,25-dihydroxyvitamin D3. 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