Table 2 Summary of cases of Niemann-Pick disease type C presenting with compound heterozygous mutations

Substitution

1

F

51

None^b

Hepatosplenomegaly, Proteinuria,

Lamellar bodies (LB)

Alive

c.2474 A > G

c.1301 C > T

p. Tyr825Cys

p. Pro434Leu

Pintavorn, P (2022) [16]

2

F

38

28

Dysmetria, Ataxia,

Cerebellar atrophy

Alive

c.1553G > A

c.1270 C > T

p. Arg518Gln

p. Pro424Ser

Costanzo, M. C (2020) [13]

3

M

6

6

Hepatocellular, carcinoma,

Hypoglycemia, Abdominal distension,

Hepatosplenomegaly

Died

c.338G > A

c.2780 C > T

p. C113Y

p. A927V

Hwang, S (2022) [17]

4

F

2

-

Visceral Enlargement, Cholestasis, Neurological involvement

-

c.2830G > A

c.3104 C > T

-

López de Frutos, L (2020) [18]

5

M

27

23

Dysarthria, Dysphagia,

Alive

-

p. Ser954Leu

p. Asn1156Ser

Maubert, A (2015) [19]

6

F

13

12

Ataxia, Cerebellar atrophy, Epilepsy, Dysphagia, Dysarthria

Died

c.2498G > A

c.1858 A > T

p. Trp833X

p. Ile609Phe

Fusco, C (2013) [20]

7

M

12

7

Dyspraxia, Cerebellar abnormalities, Splenomegaly

Alive

c.1955 C > G

c.2107T > A

p. Ser652Trp

p. Phe703Ile

Soliani, L (2020) [21]

8

M

9

4

Dysarthria, Hepatosplenomegaly,

Vertical saccades

Alive

c.1955 C > G

c.2107T > A

p. Ser652Trp

p. Phe703Ile

Soliani, L (2020) [21]

9

M

26 days

None

Hepatosplenomegaly

Alive

c.2728G > A

c.269 C > G

p. G910S

p. P90R

Zhang, G (2019) [22]

10

M

25

11

Splenomegaly, Dysphagia, Ataxia, VSGP

Alive

c.1421 C > T

c.3722 T > C

p. P474L

p. L1241S

Kawazoe, T (2018) [23]

11

F

9

3

Hepatosplenomegaly, Brain atrophy

Died

c.2108T > C

c.2348 C > G

p. F703S

p. S813X

Kodachi, T (2017) [24]

12

F

66

None

Splenomegaly

Alive

c.1133T > C

c.1990G > A

p. V378A

p. V664M

Greenberg, C. R (2015) [25]

13

M

24

21

Ataxia, VSGP, Generalized dystonia, Dysarthria, Brain atrophy

Alive

c.1552 C > T

c.2780 C > T

p. R518W

p. A927V

Lee, S. Y (2016) [26]

14

F

23

19

Ataxia, VSGP, Hepatosplenomegaly, Diffuse brain atrophy

Alive

c.1552 C > T

c.2780 C > T

p. R518W

p. A927V

Lee, S. Y (2016) [26]

15

M

19

9

Ataxia, Dysarthria, VSGP, Splenomegaly

Died

c.1042 C > T

c.2780 C > T

p. Arg348*

p. Ala927Val

Cervera-Gaviria, M (2016) [27]

Deletion-insertion

16

F

33

24

Ataxia, Dysarthria, Dysphagia, VSGP^a, Hepatosplenomegaly

Alive

c.3066_3073delinsT

c.2974G > C

p. V1023Sfs*15

p. G992R

Völkner, C (2021) [14]

17

M

2

-

Visceral Enlargement

-

c.2882_2897delinsG

c.2974G > T

-

López de Frutos, L (2020) [18]

Insertion

18

F

12

None

Hepatosplenomegaly

Alive

c.3591 + 3insT

c.3170 A > C

IVS23 + 3insT

p. K1057R

Bountouvi, E (2017) [28]

19

F

28

27

Splenomegaly, Painful dystonia

Alive

c.3011 C > T

c.160_161insG

p. S1004L

p. D54GfsX4

Kawazoe, T (2018) [23]

20

F

35

22

Splenomegaly, Schizophrenia

Alive

c.3011 C > T

c.160_161insG

p. S1004L

p. D54GfsX4

Kawazoe, T (2018) [23]

Deletion

21

M

1-years 10-months

-

Visceral Enlargement,

Neurological involvement

-

c.1757delA`a c.2746_2748delAAT

-

López de Frutos, L (2020) [18]

22

F

2-months

-

Visceral Enlargement

-

c.352_353delAG

c.530G > A

-

López de Frutos, L (2020) [18]

23

M

4

2-years

6-months

Dysphagia, Ataxia, VSGP

Died

c.864delT

c.3618delA

p. F288LfsX22

p. K1206NfsX36

Kumagai, T (2019) [29]

24

F

infant

None

Hepatosplenomegaly

Alive

c.395delC

c.2068insTCCC

-

Lo, S. M (2010) [30]