Table 1 Demographics and AKR1D1 variants in 16 children with ∆4-3-oxo-R deficiency
From: ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Patient | Sex | Ethnicity | AKR1D1 gene analysisa | |
|---|---|---|---|---|
Allele 1 | Allele 2 | |||
A1 | F | Caucasian | c.398C > G (p.Pro133Arg) | c.781C > T (p.Arg261Cys) |
A2 | F | Caucasian | c.398C > G (p.Pro133Arg) | c.781C > T (p.Arg261Cys) |
B1 | M | Caucasian & South Asian | c.593C > T (p.Pro198Leu) | c.797G > A (p.Arg266Gln) |
C1 | M | Chinese | c.614delT (p.Leu205Profs*2) | c.919C > T (p.Arg307Cys) |
D1 | F | Caucasian | c.539T > C (p.Leu180Pro) | c.856dupA (Ile286Asnfs*3) |
D2 | M | Caucasian | c.539T > C (p.Leu180Pro) | c.856dupA (Ile286Asnfs*3) |
E1 | M | Arab | c.242A > T (p.Asp81Val) | c.242A > T (p.Asp81Val) |
F1 | M | Caucasian & Arab | c.242A > T (p.Asp81Val) | c.782G > A (p.Arg261His) |
F2 | M | Caucasian & Arab | c.242A > T (p.Asp81Val) | c.782G > A (p.Arg261His) |
G1 | M | Caucasian | c.856-2A > C | c.782G > A (p.Arg261His) |
H1 | F | Caucasian | c.782G > A (p.Arg261His) | c.793C > A (p.Gln265Lys) |
I1 | M | Chinese | c.580-13T > A | c.919C > T (p.Arg307Cys) |
J1 | M | Caucasian | c.662C > T (p.Pro221Leu) | c.662C > T (p.Pro221Leu) |
K1 | M | Arab | c.242A > T (p.Asp81Val) | c.242A > T (p.Asp81Val) |
L1 | M | South Asian | c.797G > A (p.Arg266Gln) | c.797G > A (p.Arg266Gln) |
M1 | F | Hispanic | c.332T > C (p.Leu111Pro) | c.332T > C (p.Leu111Pro) |