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Vitamin D requires a two‐step activation by hydroxylation: The first step is catalyzed by hepatic 25‐hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α‐hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25‐(OH)2D. Mutations of CYP2R1 have been associated with vitamin D–dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported...
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