Kim et al. (2007) described a Moroccan patient with 1-Alpha-Hydroxylase Deficiency born to unrelated parents.  DNA analysis identified a novel homozygous deletion mutation in exon 9 of the CYP27B1 gene in the patient.  This 3922delA mutation was predicted to cause a frameshift that bypassed the termination signal and permitting translation into the 3’ UTR of the gene.  Both parents were found to be heterozygous carriers of this mutation.

AlZahrani et al. (2010) described a large Saudi Arabian family with four siblings affected with VDDR-I in whom they identified a novel biallelic missense (c.305G>A; p.G102E) mutation in exon 2 of the CYP27B1 gene.  This polymorphism was not found in 100 healthy Saudi control samples.  Multiple protein sequence alignment showed that the Glycine in this position was fairly conserved across species.  Functional studies confirmed the pathogenicity of this variant, with the mutant protein losing 80% of its enzymatic activity in cell-line experiments.  

Babiker et al. (2014) studied the CYP27B1 gene in a Saudi family with a 13-month old girl with VDDR-1.  Initial gene analysis for the common mutations in exons 2 and 8 did not reveal any positive results.  Whole exome sequencing, however, revealed the presence of a homozygous mutation in the CYP27B1 gene in the patient.  This c.1510C>T (p.Q504X) mutation introduced a premature stop codon, and was thought to be pathogenic in nature.