Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
March 2011
in “
Endocrine
”
TLDR A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
Researchers identified a novel nonsense mutation, p.R50X, in the vitamin D receptor (VDR) gene in two siblings with hereditary vitamin D-resistant rickets (HVDRR). The mutation caused a stop codon at amino acid position 50, leading to total alopecia and hypocalcemia in the children, with one showing normophosphatemia. The asymptomatic parents were heterozygous for the mutation. This study underscored the importance of genetic testing for early diagnosis and genetic counseling in HVDRR.
