TLDR A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
The document described a case of Vitamin D-dependent rickets type II in an Indian patient with severe alopecia and rickets, caused by a homozygous deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor gene. This mutation resulted in a frameshift and premature termination of the VDR protein, leading to a complete loss of its ligand binding domain and reduced binding with VDR response elements. The patient showed significant clinical improvements over 18 months with high-dose calcium infusion and oral phosphate treatment. The study highlighted the genetic basis of the condition and the importance of genetic testing for accurate diagnosis and management. The research was supported by the Indian Council of Medical Research and involved contributions from multiple authors affiliated with the All India Institute of Medical Sciences, New Delhi.
24 citations,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
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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.
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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.
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November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
