From: Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
Patient | Gender | Allele 1 | Allele 2 | Expected type of BD according to genotype | Type of BD according to enzyme activityb | Biotinidase activitya | Manner of diagnosis |
---|---|---|---|---|---|---|---|
01 | F | c.643C > T (p.L215F) | c.755A > G (p.D252G) | Profound | N/A | 21.88 U | NS |
02c | M | c.755A > G (p.D252G) | c.755A > G (p.D252G) | Profound | Profound | 0.1; 0.4; 0.33; 0.44; 0.16; 0.32 | S |
03 | F | c.1612C > T (p.R538C) | c.1612C > T (p.R538C) | Profound | Profound | 0.12 | S |
04 | M | c.1330G > C (p.D444H) | c.98_104del7ins3 | Partial | Partial | 1.5 | NS |
05 | F | c.1330G > C (p.D444H) | c.[470G > A;1330G > C] (p.[R157H;D444H]) | Partial | Partial | 1.8 | NS |
06 | M | c.1330G > C (p.D444H) | c.[511G > A;1330G > C] (p.[A171T;D444H]) | Partial | Partial | 1.4 | NS |
07 | F | c.1330G > C (p.D444H) | c.[511G > A;1330G > C] (p.[A171T;D444H]) | Partial | Hz | 2.5 | NS |
08 | F | c.1330G > C (p.D444H) | c.[511G > A;1330G > C] (p.[A171T;D444H]) | Partial | N/A | 45.81 U | NS |
09 | F | c.1330G > C (p.D444H) | c.594_596delCGT (p.V199del) | Partial | Partial | 1.2; 1.9 | NS |
10 | F | c.1330G > C (p.D444H) | c.[595G > A;1413 T > C] (p.[V199M;C471C]) | Partial | Hz | 2.8 | NS |
11 | M | c.1330G > C (p.D444H) | c.755A > G (p.D252G) | Partial | Partial | 1.7 | NS |
12 | F | c.1330G > C (p.D444H) | c.755A > G (p.D252G) | Partial | Partial | 1.2 | NS |
13 | F | c.1330G > C (p.D444H) | c.755A > G (p.D252G) | Partial | Hz | 2.4 | NS |
14 | M | c.1330G > C (p.D444H) | c.755A > G (p.D252G) | Partial | N/A | 51.37 U | NS |
15 | M | c.1330G > C (p.D444H) | c.933delT | Partial | Partial | 1.6 | NS |
16 | F | c.1330G > C (p.D444H)d | c.100G > Ad | Partial or Hz | Partial | 1.2; 2.04 | NS |
17 | M | c.1330G > C (p.D444H)d | c.643C > T (p.L215F)d | Partial or Hz | Hz | 2.4 | NS |
18 | F | c.1330G > C (p.D444H)d | c.1629C > A (p.D543E)d | Partial or Hz | Hz | 2.6 | NS |
19 | M | c.1413 T > C (p.C471C) | c.[511G > A;1330G > C] (p.[A171T;D444H]) | Hz | Hz | 3.3 | NS |
20 | M | c.1595C > T (p.T532M) | N | Hz | Hz | 1.5; 2.9; 4.4 | NS |
21 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | Hz | 0.7; 3.3 | NS |
22 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | Hz | 3.7 | NS |
23 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | Hz | 2.8; 2.7 | NS |
24 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 48.75 U | NS |
25 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 51.83 U | NS |
26 | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 46.88 U | NS |
27c | M | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 52.73 U | NS |
28 | F | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 40.94 U | NS |
29 | F | c.1330G > C (p.D444H) | c.1330G > C (p.D444H) | Hz | N/A | 45.37 U | NS |
30 | M | c.1330G > C(p.D444H) | N | N | Borderline (Hz/N) | 4.9 | NS |
31 | F | c.1330G > C (p.D444H) | N | N | Hz | 3.1 | NS |
32 | F | c.1330G > C (p.D444H) | N | N | Hz | 3.8; 2.7 | S |
33 | M | c.1413 T > C (p.C471C) | N | N | Borderline (Hz/N) | 0.1; 2.6; 4.9 | NS |
34 | F | N | N | N | Hz | 4.1 | S |
35 | M | N | N | N | Hz | 3.7 | S |
36 | F | c.1330G > C (p.D444H) | c.119 T > C (p.L40P) | Unknown | Partial | 1.7 | NS |
37 | M | c.1330G > C (p.D444H) | c.479G > A (p.C160Y) | Unknown | Borderline (Partial/Hz) | 0.2; 1.7; 2.2 | NS |
38 | M | c.664G > A (p.D222N) | N | Unknown | Hz | 3.5 | NS |