Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

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]

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.
1	1	Taiwan	p.S182G	p.S182G	27	42	S (27), M (28), A (29)	0	Lai et al[4], 2009
1	2	Taiwan	p.S182G	p.S182G	19	34	S (19), M (19), A (19), V (29), SD	0	Lai et al[4], 2009
2	3	Taiwan	p.S182G	p.S182G	14	39	M (14), S (14), V (14), A (16), SD	0	Lai et al[4], 2009
2	4	Taiwan	p.S182G	p.S182G	26	36	V (26), M (27), A (27), SD	0	Lai et al[4], 2009
3	5	Taiwan	p.S182G	p.S182G	16	31	M (16), A (17), V (19), S (21)	0	Lai et al[4], 2009
3	6	Taiwan	p.S182G	p.S182G	12	29	M (12), A (13), S (16), V (18)	0	Lai et al[4], 2009
4	7	Taiwan	p.S182G	p.S182G	20	51	M (20), Fall (20), S (26), SD	0	Lai et al[4], 2009
4	8	Taiwan	p.S182G	p.S182G	33	45	V (33), M (34), A (34), S (37)	0	Lai et al[4], 2009
5	9	Taiwan	p.S182G	p.S182G	20	39	M (20), A (21), SD	0	Lai et al[4], 2009
5	10	Taiwan	p.S182G	p.S182G	15	35	M (15), A (15), V (25), SD	0	Lai et al[4], 2009
6	11	Taiwan	p.S182G	p.S182G	18	42	M (18), Fall (18), S (20), A (24), V (28)	0	Lai et al[4], 2009
7	12	Taiwan	p.S182G	p.S182G	28	47	S (28), M (29), A (29), V (39)	0	Lai et al[4], 2009
8	13	Taiwan	p.S182G	p.A319V	14	25	M (14), A (19), S (25), V (20), SD	1	Lai et al[4], 2009
9	14	Taiwan	p.S182G	p.Q55X	12	27	M (12), A (14), V (14), S (15)	1	Lai et al[4], 2009
10	15	Taiwan	p.S182G	p.S182G	19	49	M (19), A (24), V (29)	0	Lai et al[4], 2009
11	16	Taiwan	p.S182G	p.S182G	18	33	V (18), M (20), A (20), S (33), SD	0	Lai et al[4], 2009
12	17	Taiwan	p.S182G	p.S182G	14	43	V (14), M (31), A (32), S (40)	1	Lai et al[4], 2009
13	18	Mainland	p.S182G	p.P80L	11	17	V (11), S (15), M (15), A (15)	1	Baojingzi et al[30], 2015
14	19	Taiwan	p.S182G	p.Gln207*	12	15	S (12), A (12), M (12), dysarthria	1	Hu et al[20], 2018
15	20	Taiwan	p.S182G	p.A106_G118 deletion	13	16	M (13), A	0	Fan et al[8], 2020
16	21	Mainland	p.S182G	p.P80L	10	12	Limb pain (10), Fall (10), M (11), V (11), S (11)	1	Liu et al[29], 2019
17	22	China	p.S182G	p.S182G	NA	24	M, dysphagia	NA	Carey et al[31], 1997
18	23	Mainland	p.S182G	p.P80L	16	22	M (16), A (19)	0	Current study

A: Ataxia; M: Myoclonus; S: Seizure; SD: Sensory defect; V: Visual defect. 0: Absent; 1: Present; NA: Not available.