Copyright
©The Author(s) 2021.
World J Clin Cases. Jan 26, 2021; 9(3): 623-631
Published online Jan 26, 2021. doi: 10.12998/wjcc.v9.i3.623
Published online Jan 26, 2021. doi: 10.12998/wjcc.v9.i3.623
Table 1 Mutations in the neuraminidase 1 gene causing type 1 sialidosis
Mutation | Nucleotide change | Exon | Origin | Ref. |
R6Qfs*21 | c.15_16del | 1 | Korean | Ahn et al[7] |
V54M | c.160G>A | 1 | German | Bonten et al[17] |
Q55X | c.163C>T | 1 | Taiwanese | Lai et al[4] |
S67I | c.200G>T | 2 | Italian | Canafoglia et al[18] |
P80L | c.239C>T | 2 | Japanese, Chinese | Sekijima et al[15] |
A106_G118 del | c.314_352del | 2 | Taiwanese | Fan et al[8] |
L111P | c.332T>C | 2 | French | Seyrantepe et al[11] |
D135N | c.403G>A | 3 | Japanese | Sekijima et al[15] |
G136E | c.407G>A | 3 | French | Seyrantepe et al[11] |
D177V | c.530A>T | 3 | Italian | Hu et al[20] |
S182G | c.544A>G | 3 | Chinese, Taiwanese | Lai et al[4], Fan et al[8], Mohammad et al[12], Bonten et al[17], and Hu et al[20] |
Q207X | c.619C>T | 3 | Taiwanese | Hu et al[20] |
E209Sfs*94 | c.625delG | 3 | Turkish | Gultekin et al[21] |
P210L | c.629C>T | 3 | Ecuadorian | Aravindhan et al[14] |
V217M | c.649G>A | 4 | Japanese | Naganawa et al[16] |
G218A | c.654G>A | 4 | African-American | Bonten et al[17] |
G219A | c.656G>A | 4 | African, American | Bonten et al[17] |
G227R | c.679G>A | 4 | Greek, Italian, East-Asian, Dutch | Mohammad et al[12], Bonten et al[17], Canafoglia et al[18], Schene et al[22] |
L231H | c.692T>A | 4 | African | Bonten et al[17] |
S233R | c.699C>A | 4 | German | Mütze et al[23] |
D234N | c.700G>A | 4 | Portuguese | Sobral et al[13] |
G243R | c.727G>A | 4 | Japanese | Naganawa et al[16] |
G248C | c.742G>T | 4 | Indian | Gowda et al[24] |
Y268C | c.803A>G | 5 | German | Mütze et al[23] |
V275A | c.824T>C | 5 | French | Seyrantepe et al[11] |
R280Q | c.839G>A | 5 | Italian | Caciotti et al[19] |
R294S, R294C | c.880C>A, c.880C>T | 5 | African, Indian, Hispanic | Bonten et al[17] |
R305C | c.913C>T | 5 | Italian | Canafoglia et al[18] |
D310N | c.928G>A | 5 | Turkish, Korean | Ahn et al[7], Gultekin et al[21] |
P316S | c.946C>T | 5 | Japanese | Itoh et al[25] |
A319V | c.956C>T | 5 | Taiwanese | Lai et al[4] |
G328S | c.982G>A | 5 | Italian | Palmeri et al[26] |
H337R | c.1010A>G | 5 | Italian | Caciotti et al[19] |
R341X | c.1021C>T | 5 | Portuguese | Sobral et al[13] |
T345I | c.1034C>T | 6 | Czech | Seyrantepe et al[11] |
E377X | c.1129G>T | 6 | German | Canafoglia et al[18] |
N398Tfs*90 | c.1191delG | 6 | Indian | Ranganath et al[27] |
H399_Y400dup | c.1195_1200dup | 6 | Dutch | Schene et al[22] |
- Citation: Cao LX, Liu Y, Song ZJ, Zhang BR, Long WY, Zhao GH. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. World J Clin Cases 2021; 9(3): 623-631
- URL: https://www.wjgnet.com/2307-8960/full/v9/i3/623.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i3.623