Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene

March 2011 in “ Endocrine ”

Vichit Supornsilchai, Yodporn Hiranras, Suttipong Wacharasindhu, Atchara Mahayosnond, Kanya Suphapeetiporn, Vorasuk Shotelersuk

vitamin D receptor VDR gene hereditary vitamin D-resistant rickets HVDRR total alopecia hypocalcemia normophosphatemia total hair loss low calcium levels normal phosphate levels

Studysummary In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings. Our plain-language summary of this paper — not a Tressless recommendation.

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.

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research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

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research Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D

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