One patient (P11) was diagnosed with vitamin D-dependent rickets type 1A and carried compound heterozygous mutations in the CYP27B1 gene, including a missense variant (c.1166 G>A, p.Arg289His) and a frameshift variant (c.1319_1325dup, p.Phe443ProfsTer24). This evidence concerns the gene CYP27B1 and vitamin D-dependent rickets, type 1A.