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Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.


ABSTRACT: A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid chromatography-tandem mass spectrometry showed the absence of circulating vitamin D-binding protein, and chromosomal microarray confirmed a homozygous deletion of the group-specific component (GC) gene that encodes the protein. Congenital absence of vitamin D-binding protein resulted in normocalcemia and a relatively mild disruption of bone metabolism, in this case complicated by severe autoimmune disease. (Funded by the National Institutes of Health and the University of Washington.).

SUBMITTER: Henderson CM 

PROVIDER: S-EPMC7898410 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the <i>GC</i> Gene.

Henderson Clark M CM   Fink Susan L SL   Bassyouni Hanan H   Argiropoulos Bob B   Brown Lindsay L   Laha Thomas J TJ   Jackson Konner J KJ   Lewkonia Raymond R   Ferreira Patrick P   Hoofnagle Andrew N AN   Marcadier Julien L JL  

The New England journal of medicine 20190301 12


A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid chromatography-tandem mass spectrometry showed the absence of circulating vitamin D-binding protein, and chromosomal microarray confirmed a homozygous deletion of the group-specific component (<i>GC</i>) gene that encodes the protein. Congenital absence of vitamin D-binding protein resulted in  ...[more]

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