CYP27A1 and cerebrotendinous xanthomatosis: The pathogenic/likely pathogenic variant of CYP27A1 c.379C>T (p.Arg127Trp) was found in a heterozygous state in one female patient, aged 60 years, with no clinical signs characteristic of cerebrotendinous xanthomatosis that have been described in homozygous carriers of this variant and compound heterozygous cases [20,21].