JOURNAL ARTICLE

Unmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene.

  • Published In: European Journal of Endocrinology, 2024, v. 190, n. 6. P. K53 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Nygaard, Rie Harboe; Lauritzen, Esben Stistrup; Sikjær, Tanja; Højskov, Carsten Schriver; Rejnmark, Lars; Møller, Holger Jon 3 of 3

Abstract

This article focuses on a rare case of hereditary vitamin D binding protein (DBP) deficiency caused by a novel homozygous loss-of-function mutation in exon 13 of the group-specific component (GC) gene, which encodes DBP. A 29-year-old woman with unmeasurable vitamin D levels (<10 nmol/L) despite high-dose supplementation exhibited a normal clinical phenotype without signs of bone disease or secondary hyperparathyroidism. The case supports the free hormone hypothesis, suggesting that the biologically active fraction of vitamin D is the free, unbound form rather than the total circulating vitamin D bound to DBP. This report is the third documented human case of DBP deficiency and highlights gaps in understanding the full physiological role of DBP and the GC gene.

Additional Information

  • Source:European Journal of Endocrinology. 2024/06, Vol. 190, Issue 6, pK53
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2024
  • ISSN:0804-4643
  • DOI:10.1093/ejendo/lvae061
  • Accession Number:178159961
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