1 |
II |
No |
Northeast |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
2 |
II |
No |
Midwest |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
3 |
II |
No |
Midwest |
c.[2808A>G];[3503_3504del] |
p.[Tyr937_Met972del];[p.Leu1168Glnfs*5] |
14/19 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
4 |
II |
Yes |
Northeast |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
5 |
III |
No |
Southeast |
c.[1514G>A];[1759C>T] |
p.[Cys505Tyr];[(Arg587*)] |
12/13.1 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
6 |
II |
No |
Southeast |
c.[2269_2273del];[2269_2273del] |
p.[(Glu757Lysfs*2)];[(Glu757Lysfs*2)] |
13.2/13.2 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
7 |
III |
No |
South |
c.[1196C>T];[3503_3504del] |
p.[Ser399Phe];[Leu1168Glnfs*5] |
10/19 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
8 |
III |
No |
Northeast |
c.[1208T>C];[3503_3504del] |
p.[Ile403Thr];[Leu1168Glnfs*5] |
19/10 |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
9 |
III |
No |
Northeast |
c.[3503_3504del];[?] |
p.[Leu1168Glnfs*5];[(?)] |
19/ ? |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
10 |
II |
No |
Southeast |
c.[1123C>T];[?] |
p.[Arg375*];[(?)] |
10/ ? |
Cury et al., 2013Cury GK, Matte U, Artigalás O, et al. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524(1):59-64. doi: 10.1016/j.gene.2013.03.105 https://doi.org/10.1016/j.gene.2013.03.1...
|
11 |
III |
No |
Southeast |
c.[1931C>T];[3668_3670del] |
p.[Thr644Met];[(Thr1223del)] |
13.1/20 |
Velho et al., 2015 |
12 |
III |
No |
Southeast |
c.[1208T>C];[1723G>A] |
p.[Ile403Thr];[Gly575Arg] |
10/13.1 |
Sperb-Ludwig et al., 2015Sperb-Ludwig F, Alegra T, Velho RV, et al. Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype. Mol Genet Metab Reports. 2015;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001 https://doi.org/10.1016/j.ymgmr.2014.12....
|
13 |
II |
Yes |
Southeast |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
14 |
II |
No |
Southeast |
c.242G>T(;)2249dup |
p.Trp81Leu(;)Asn750Lysfs*8 |
3/13.2 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
15 |
II |
No |
Southeast |
c.[1154C>T];[3503_3504del] |
p.[Ser385Leu];[Leu1168Glnfs*5] |
19/10 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
16 |
II |
No |
Southeast |
c.2249dup(;)3503_3504del |
p.Asn642Leufs*10(;)Leu1168Glnfs*5 |
19/13.2 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
17 |
II |
No |
South |
c.[831del];[3503_3504del] |
p.[(Phe277Phefs*3)];[Leu1168Glnfs*5] |
19/8 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
18 |
II |
No |
Southeast |
c.[242G>T];[1924_1927del] |
p.[Trp81Leu];[Asn642Leufs*10] |
3/13.1 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
19 |
III |
No |
Southeast |
c.[1208T>C];[832C>T] |
p.[Ile403Thr];[(Gln278*)] |
10/8 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
20 |
II |
Yes |
Northeast |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
21 |
II |
No |
Northeast |
c.1763dup(;)3333T>G |
p.(His588Glnfs*26)(;)(Try1111*) |
13.1/17 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
22 |
III |
No |
Northeast |
c.1514G>A(;)3503_3504del |
p.Cys505Tyr(;)Leu1168Glnfs*5 |
19/12 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
23 |
III |
No |
Northeast |
c.[1208T>C];[3503_3504del] |
p.[Ile403Thr];[Leu1168Glnfs*5] |
19/10 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
24 |
III |
No |
Northeast |
c.[1208T>C];[3503_3504del] |
p.[Ile403Thr];[Leu1168Glnfs*5] |
19/10 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
25 |
II |
Yes |
Northeast |
c.227A>G(;)227A>G |
p.Asp76Gly(;)Asp76Gly |
3/3 |
Ludwig et al., 2017Ludwig NF, Voltolini Velho R, Sperb-ludwig F, et al. GNPTAB missense mutations cause loss of GlcNAc-phosphotransferase activity in mucolipidosis tipe II through distinct mechanisms. Int J Biochem Cell Biol. 2017;92:90-94.
|
26 |
III |
No |
Southeast |
c.[242G>T];[?] |
p.[Trp81Leu];[(?)] |
3/ ? |
Alegra et al., 2019 |
27 |
II |
No |
Southeast |
c.[2249dup];[2249dup] |
p.[Asn750Lysfs*8];[Asn750Lysfs*8] |
13/13 |
Ludwig 2020Ludwig NF. Análise abrangente de variantes de GNPTAB associadas à atividade deficiente da GlcNAc-1-fosfotransferase. Doctoral Dissertation. Universidade Federal do Rio Grande do Sul; 2020.
|
28 |
III |
No |
South |
c.[1196C>T];[2757_2758del] |
p.[Ser399Phe];[(Asp919Glufs*21)] |
10/14 |
Ludwig 2020Ludwig NF. Análise abrangente de variantes de GNPTAB associadas à atividade deficiente da GlcNAc-1-fosfotransferase. Doctoral Dissertation. Universidade Federal do Rio Grande do Sul; 2020.
|
29 |
III |
Yes |
South |
c.1196C>T(;)1196C>T |
p.Ser399Phe(;)Ser399Phe |
10/10 |
This study |
30 |
III |
No |
Midwest |
c.1208T>C(;)3503_3504del |
p.Ile403Thr(;)Leu1168Glnfs*5 |
19/10 |
This study |
31 |
II |
Yes |
Southeast |
c.[3503_3504del];[3503_3504del] |
p.[Leu1168Glnfs*5];[Leu1168Glnfs*5] |
19/19 |
This study |
32 |
II |
No |
North |
c.2034dup(;)2720_2721del |
p.(Phe678Phefs*1)(;)(Glu907Glyfs*11) |
13/14 |
This study |