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.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
47 citations,
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82 citations,
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107 citations,
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6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
