Table 1.
Genetic characteristics and laboratory parameters of patients with 24-hydroxylase deficiency (n = 9)
| Genetic variant or laboratory parameter | |
|---|---|
| CYP24A1 (24-hydroxylase) variant, n(%) a | |
| c.1226T>C (p.Leu409Ser) (homozygous) | 1 (11.1) |
| c.999_106del (p.Ser334Valfs*9) and c.1186C > T (p.Arg396Trp) | 1 (11.1) |
| IVS5 + 1G>A and IVS6-2A > G (N/A) | 1 (11.1) |
| IVS6-2A>G (N/A) (single mutation) | 2 (22.2) |
| IVS5 + 1G>A (N/A) (single mutation) | 1 (11.1) |
| Unknown | 3 (33.3) |
| 24,25(OH) 2 D 3 , ng/mL, median (IQR) | 0.20 (0.15, 0.23) |
| 25(OH)D 3 :24,25(OH) 2 D ratio, median (IQR) | 353 (336, 460) |
| Family history of 24-hydroxylase variant | |
| Yes | 4 (44.4) |
| Unknown | 5 (55.6) |
Summary statistics are presented as median (IQR) for continuous variables and n (%) for categorical variables.
Abbreviations: IQR, interquartile range; N/A, not applicable.
a Protein alteration, if applicable, is shown parenthetically after the variant.