Case Report
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
Table 1 Mutations in the neuraminidase 1 gene causing type 1 sialidosis
Mutation
Nucleotide change
Exon
Origin
Ref.
R6Qfs*21c.15_16del1KoreanAhn et al[7]
V54Mc.160G>A1GermanBonten et al[17]
Q55Xc.163C>T1TaiwaneseLai et al[4]
S67Ic.200G>T2ItalianCanafoglia et al[18]
P80Lc.239C>T2Japanese, ChineseSekijima et al[15]
A106_G118 delc.314_352del2TaiwaneseFan et al[8]
L111Pc.332T>C2FrenchSeyrantepe et al[11]
D135N c.403G>A3JapaneseSekijima et al[15]
G136Ec.407G>A3FrenchSeyrantepe et al[11]
D177Vc.530A>T3ItalianHu et al[20]
S182Gc.544A>G3Chinese, TaiwaneseLai et al[4], Fan et al[8], Mohammad et al[12], Bonten et al[17], and Hu et al[20]
Q207Xc.619C>T3TaiwaneseHu et al[20]
E209Sfs*94c.625delG3TurkishGultekin et al[21]
P210Lc.629C>T3EcuadorianAravindhan et al[14]
V217Mc.649G>A4JapaneseNaganawa et al[16]
G218Ac.654G>A4African-AmericanBonten et al[17]
G219Ac.656G>A4African, AmericanBonten et al[17]
G227Rc.679G>A4Greek, Italian, East-Asian, DutchMohammad et al[12], Bonten et al[17], Canafoglia et al[18], Schene et al[22]
L231Hc.692T>A4AfricanBonten et al[17]
S233Rc.699C>A4GermanMütze et al[23]
D234Nc.700G>A4PortugueseSobral et al[13]
G243Rc.727G>A4JapaneseNaganawa et al[16]
G248Cc.742G>T4IndianGowda et al[24]
Y268C c.803A>G5GermanMütze et al[23]
V275Ac.824T>C5FrenchSeyrantepe et al[11]
R280Qc.839G>A5ItalianCaciotti et al[19]
R294S, R294Cc.880C>A, c.880C>T5African, Indian, HispanicBonten et al[17]
R305Cc.913C>T5ItalianCanafoglia et al[18]
D310Nc.928G>A5Turkish, KoreanAhn et al[7], Gultekin et al[21]
P316Sc.946C>T5JapaneseItoh et al[25]
A319Vc.956C>T5TaiwaneseLai et al[4]
G328Sc.982G>A5ItalianPalmeri et al[26]
H337Rc.1010A>G5ItalianCaciotti et al[19]
R341Xc.1021C>T5PortugueseSobral et al[13]
T345Ic.1034C>T6CzechSeyrantepe et al[11]
E377Xc.1129G>T6GermanCanafoglia et al[18]
N398Tfs*90c.1191delG6IndianRanganath et al[27]
H399_Y400dupc.1195_1200dup6DutchSchene et al[22]
Table 2 Clinical and molecular genetic features of type 1 sialidosis patients in the Chinese population
Family
Case
Geographical distribution
Mutation 1
Mutation 2
Age at onset, yr
Age at diagnosis, yr
Symptoms (presenting age)
Cherry-red spot
Ref.
11Taiwanp.S182Gp.S182G2742S (27), M (28), A (29)0Lai et al[4], 2009
12Taiwanp.S182Gp.S182G1934S (19), M (19), A (19), V (29), SD0Lai et al[4], 2009
23Taiwanp.S182Gp.S182G1439M (14), S (14), V (14), A (16), SD0Lai et al[4], 2009
24Taiwanp.S182Gp.S182G2636V (26), M (27), A (27), SD0Lai et al[4], 2009
35Taiwanp.S182Gp.S182G1631M (16), A (17), V (19), S (21)0Lai et al[4], 2009
36Taiwanp.S182Gp.S182G1229M (12), A (13), S (16), V (18)0Lai et al[4], 2009
47Taiwanp.S182Gp.S182G2051M (20), Fall (20), S (26), SD0Lai et al[4], 2009
48Taiwanp.S182Gp.S182G3345V (33), M (34), A (34), S (37)0Lai et al[4], 2009
59Taiwanp.S182Gp.S182G2039M (20), A (21), SD0Lai et al[4], 2009
510Taiwanp.S182Gp.S182G1535M (15), A (15), V (25), SD0Lai et al[4], 2009
611Taiwanp.S182Gp.S182G1842M (18), Fall (18), S (20), A (24), V (28)0Lai et al[4], 2009
712Taiwanp.S182Gp.S182G2847S (28), M (29), A (29), V (39)0Lai et al[4], 2009
813Taiwanp.S182Gp.A319V1425M (14), A (19), S (25), V (20), SD1Lai et al[4], 2009
914Taiwanp.S182Gp.Q55X1227M (12), A (14), V (14), S (15)1Lai et al[4], 2009
1015Taiwanp.S182Gp.S182G1949M (19), A (24), V (29)0Lai et al[4], 2009
1116Taiwanp.S182Gp.S182G1833V (18), M (20), A (20), S (33), SD0Lai et al[4], 2009
1217Taiwanp.S182Gp.S182G1443V (14), M (31), A (32), S (40)1Lai et al[4], 2009
1318Mainlandp.S182Gp.P80L1117V (11), S (15), M (15), A (15)1Baojingzi et al[30], 2015
1419Taiwanp.S182Gp.Gln207*1215S (12), A (12), M (12), dysarthria1Hu et al[20], 2018
1520Taiwanp.S182Gp.A106_G118 deletion1316M (13), A0Fan et al[8], 2020
1621Mainlandp.S182Gp.P80L1012Limb pain (10), Fall (10), M (11), V (11), S (11)1Liu et al[29], 2019
1722Chinap.S182Gp.S182GNA24M, dysphagiaNACarey et al[31], 1997
1823Mainlandp.S182Gp.P80L1622M (16), A (19)0Current study