Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.

Abstract excerpt

OBJECTIVE: To study the vitamin D receptor (VDR) gene in a young girl with severe rickets and clinical features of hereditary vitamin D resistant rickets, including hypocalcemia, hypophosphatemia, partial alopecia, and elevated serum levels of 1,25-dihydroxyvitamin D. STUDY DESIGN: We amplified and sequenced DNA samples from blood from the patient, her mother, and the patient's two siblings. We also amplified and...

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