1#
|
c.1330G>C (p.Asp444His) |
c.[595C>A;1413T>C] ( p.Val199Met / p.Cys471Cys) |
Partial |
2.8 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
2#
|
c.[1330G>C;643C>T]*
|
p.Asp444His / p.Leu215Phe*
|
Partial |
2.4 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
3#
|
c.1330G>C (p.Asp444His) |
c.511G>A (p.Ala171Thr) |
Partial |
2.5 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
4#
|
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
2.4 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
5#
|
c.1330G>C (p.Asp444His) |
c.1629C>A (p.Asp543Glu) |
Partial |
2.5 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
6#
|
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
3.03 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
7 |
c.[1330G>C;1629C>A]*
|
p.Asp444Hisp / Asp543Glu*
|
Partial / Hz |
2.6 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
8 |
c.[1330G>C;511G>A] (p.Asp444His / p.Ala171Thr) |
c.1413T>C (p.Cys471Cys) |
Hz |
3.3 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
9 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
3.3 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
10 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
4.6 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
11 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
3.2 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
12 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
3.0 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
13 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
3.0 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
14 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.8 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
15 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.6 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
16 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
3.7 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
17 |
c.1368A>C (p.Gln456His) |
WT |
Hz |
2.8 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
18 |
c.1413T>C (p.Tyr494Cys) |
c.1629C>A (p.Cys471Cys) |
Hz |
4.0 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
19 |
c.643C>T (p.Leu215Phe) |
WT |
Hz |
3.4 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
20 |
c.1595C>T (p.Thr532Met) |
WT |
Hz |
2.9 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
21 |
c.1595C>T (p.Thr532Met) |
WT |
Hz |
2.9 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
22 |
c.364A>G (p.Arg122Gly) |
WT |
Hz |
3.8 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
23 |
c.[595C>A;1413T>C] (p.Val199Met / p.Cys471Cys) |
WT |
Hz |
3.6 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
24#
|
WT |
WT |
Normal |
2.6 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
25#
|
WT |
WT |
Normal |
3.3 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
26#
|
WT |
WT |
Normal |
4.1 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
27#
|
WT |
WT |
Normal |
3.7 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
28#
|
c.1330G>C (p.Asp444His) |
WT |
Normal |
3.5 |
Hz |
In this study |
29#
|
c.1368A>C (p.Gln456His) |
WT |
Normal |
2.8 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
30#
|
c.1330G>C (p.Asp444His) |
c.1284C>T (p.Tyr428Tyr) |
Normal |
4.4 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
31#
|
c.1330G>C (p.Asp444His) |
WT |
Normal |
3.8 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
32#
|
c.1330G>C (p.Asp444His) |
WT |
Normal |
3.1 |
Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
33#
|
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.2 |
Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
34 |
c.1330G>C (p.Asp444His) |
WT |
Partial |
2.1 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
35 |
c.1368A>C (p.Gln456His) |
WT |
Partial |
2.1 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
36 |
c.[755A>G;1330G>C]*
|
p.Asp252Gly / p.Asp444His*
|
Partial |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
37 |
c.1330G>C (p.Asp444His) |
c.479G>A (p.Cys160Tyr) |
Partial/Hz |
2.3 |
Partial/Hz |
In this study |
38 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
39 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.3 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
40 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
41 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.3 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
42 |
c.1330G>C (p.Asp444His) |
c.1330G>C (p.Asp444His) |
Hz |
2.3 |
Partial/Hz |
In this study |
43 |
c.278A>G (p.Tyr93Cys) |
c.1330G>C (p.Asp444His) |
Hz |
2.1 |
Partial/Hz |
In this study |
44 |
c.1330G>C (p.Asp444His) |
c.479G>A (p.Cys160Tyr) |
Hz |
2.3 |
Partial/Hz |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
45 |
c.1330G>C (p.Asp444His) |
c.1337T>C (p.Leu446Pro) |
Unknown |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
46 |
c.278A>G (p.Tyr93Cys) |
WT |
Unknown |
2.3 |
Partial/Hz |
In this study |
47 |
c.278A>G (p.Tyr93Cys) |
WT |
Unknown |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
48 |
c.278A>G (p.Tyr93Cys) |
WT |
Unknown |
2.2 |
Partial/Hz |
In this study |
49 |
c.[595G>A;1330G>C;1629C>A]*
|
p.Val199Met / p.Asp444Hist / p.Cys471Cys*
|
Unknown |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
50 |
WT |
c.278A>G (p.Tyr93Cys) |
Hz |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
51 |
c.[755A>G;1330G>C]*
|
p.Asp252Gly / p.Asp444His*
|
Hz |
2.2 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
52 |
WT |
c.1368A>C (p.Gln456His) |
Hz |
2.1 |
Partial/Hz |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
53 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
54 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
55 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
56 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
57 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
58 |
WT |
c.1330G>C (p.Asp444His) |
Normal |
4.9 |
Hz/Normal |
In this study |
59 |
c.1330G>C (p.Asp444His) |
WT |
Normal |
5.0 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
60 |
c.1330G>C (p.Asp444His) |
WT |
Normal |
5.0 |
Hz/Normal |
In this study |
61 |
c.1330G>C (p.Asp444His) |
WT |
Normal |
5.0 |
Hz/Normal |
In this study |
62 |
WT |
c.1629C>A (p.Cys471Cys) |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
63 |
WT |
c.1629C>A (p.Cys471Cys) |
Normal |
5.0 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
64 |
c.1629C>A (p.Cys471Cys) |
WT |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
65 |
c.1629C>A (p.Cys471Cys) |
WT |
Normal |
4.9 |
Hz/Normal |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
66 |
c.1629C>A (p.Cys471Cys) |
WT |
Normal |
4.9 |
Hz/Normal |
In this study |
67 |
c.1629C>A (p.Cys471Cys) |
WT |
Normal |
4.9 |
Hz/Normal |
In this study |
68 |
WT |
WT |
Normal |
5.0 |
Hz/Normal |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
69 |
c.1330G>C (p.Asp444His) |
c.119T>C (p.Leu40Pro) |
Unknown |
1.7 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
70 |
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
1.9 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
71 |
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
1.4 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
72 |
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
1.2 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
73 |
c.1330G>C (p.Asp444His) |
c.755A>G (p.Asp252Gly) |
Partial |
1.8 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
74 |
c.755A>G (p.Asp252Gly) |
c.1330G>C (p.Asp444His) |
Partial |
1.4 |
Partial |
In this study |
75 |
c.1330G>C (p.Asp444His) |
c.[511G>A;1330G>C] (p.Ala171Thr / p.Asp444His) |
Partial |
1.4 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
76 |
c.1330G>C (p.Asp444His) |
c.[470G>A;1330G>C] ( p.Arg157His / p.Asp444His) |
Partial |
1.8 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
77 |
c.1330G>C (p.Asp444His) |
c.[470G>A;1330G>C] ( p.Arg157His / p.Asp444His) |
Partial |
1.9 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
78 |
c.[1284C>T;1489C>T] (p.Tyr428Tyr / p.Pro497Ser) |
c.1330G>C (p.Asp444His) |
Partial |
2.0 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
79 |
c.1330G>C (p.Asp444His) |
c.594_596del (p.Val199del) |
Partial |
1.9 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
80 |
c.1330G>C (p.Asp444His) |
c.594_596del (p.Val199del) |
Partial |
2.0 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
81 |
c.1330G>C (p.Asp444His) |
c.98_104del (fs) |
Partial |
1.5 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
82 |
c.1330G>C (p.Asp444His) |
c.98_104del (fs) |
Partial |
1.6 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
83 |
c.[98_104del;1330G>C]*
|
p.Cys33fs / p.Asp444His*
|
Partial |
2.0 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
84 |
c.[100G>A;1330G>C]*
|
p.Gly34Ser / p.Asp444His*
|
Partial / Hz |
2.04 |
Partial |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
85 |
c.1368A>C (p.Gln456His) |
c.1330G>C (p.Asp444His) |
Partial |
2.0 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
86#
|
WT |
c.1330G>C (p.Asp444His) |
Normal |
1.2 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
87#
|
WT |
c.1330G>C (p.Asp444His) |
Normal |
1.2 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
88 |
c.[1330G>C;1629C>A] (p.Asp444His / p.Ala171Thr) |
c.1466A>G (p.Asn489Ser) |
Unknown |
1.4 |
Partial |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
89 |
c.643C>T (p.Leu215Phe) |
c.755A>G (p.Asp252Gly) |
Total |
0.04 |
Total |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
90 |
c.755A>G (p.Asp252Gly) |
c.755A>G (p.Asp252Gly) |
Total |
0.44 |
Total |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |
91 |
c.1227_1241del (p.Trp409fs) |
c.1227_1241del (p.Trp409fs) |
Total |
0.09 |
Total |
Borsatto et al. (2017Borsatto T , Sperb-Ludwig F, Lima SE et al (2017) Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One 12:5. ) |
92 |
c.1612C>T (p.Arg538Cys) |
c.1612C>T (p.Arg538Cys) |
Total |
0.12 |
Total |
Borsatto et al. (2014Borsatto T, Sperb-Ludwig F, Pinto LL, De Luca GR, Carvalho FL, De Souza CF, De Medeiros PF, Lourenço CM, Lo Filho R, Eurico Neto C et al (2014) Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. BMC Med Genet 15:96.) |