A Unique Insertion/Duplication in the VDR Gene That Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia

October 2006 in “ Archives of Biochemistry and Biophysics ”

Peter J. Malloy, Jining Wang, Lihong Peng, Sunil Nayak, Jeanne M. Sisk, Catherine C. Thompson, David Feldman

VDR gene 1,25-dihydroxyvitamin D3 alopecia hairless HR vitamin D resistant rickets truncated VDR protein

Studysummary This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

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