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]