TLDR A girl had rickets due to a gene mutation affecting vitamin D response.
Hereditary vitamin D-resistant rickets (HVDRR) was identified in a young girl with a heterozygous missense mutation in the vitamin D receptor (VDR) gene, specifically substituting glutamic acid with alanine at amino acid 420 (E420A). This mutation led to clinical features of rickets and hypocalcemia, despite elevated serum 1,25-dihydroxyvitamin D levels. The girl's father, also carrying the mutation, showed minor symptoms, while the mother was unaffected. The E420A mutation exhibited dominant-negative activity, impairing the function of the wild-type VDR and reducing the response to 1,25(OH)2D3. This case was the first reported instance of HVDRR caused by a single heterozygous mutation in the VDR gene.
151 citations,
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42 citations,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
29 citations,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
139 citations,
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1308 citations,
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107 citations,
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5 citations,
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151 citations,
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1533 citations,
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6 citations,
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July 2023 in “Journal of medical and health studies” A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
