Table 1 Clinical and molecular data of 27 Chinese patients with acid sphingomyelinase-deficient NPD

1

A

male

1y

1 m

HP, PR, diarrhea, RG, death at 3 years 5 months

[c.842-849dup8] + [c.742G>T]

p.His284SerfsX17 / p.Glu248X

E2 / E2

0

2

A

female

2y

3 m

HP, PR, RG, PF

[c.842-849dup8] + [c.1451C>T]

p.His284SerfsX17 / p.Ala484Val

E2 / E5

0

3

A

female

11 m

5 m

HP, PG, RG, anemia, leucocytopenia, RR, died at age 1

[c.842-849dup8] + [c.742G>T]

p.His284SerfsX17 / p.Glu248X

E2 / E2

2.3

4

A

male

1y4m

5 m

HP, hypotonia,diarrhea, elevated TG, death at 20 m

[c.1309T>C] + [c.1598C>T; c.1621G>A]

p.Trp437Arg / (p.Pro533Leu; p.Ala541Thr)

E4 / E6

4.9

5

A

male

6 m

3 m

HP, hypotonia, PF

[c.842-849dup8] +[c.842-849dup8]

p.His284SerfsX17 / p.His284SerfsX17

E2 / E2

1.7

6

A

female

3 m

after birth

HP, jaundice, hypotonia,PF

[c.842-849dup8] + [c.742G>T; c.1445T>C]

p.His284SerfsX17 / (p.Glu248X; p.Phe482Ser)

E2 / (E2;E5)

0.6

7

A

female

2y

3 m

HP, hypotonia, RR, died at 1y

[c.842-849dup8] +[c.1458T>G]

p.His284SerfsX17 / p.Ser486Arg

E2 / E5

unknown

8

A

male

1y4m

6 m

diarrhea, HP, hypotonia, PR

[c.1382A>C] +[IVS5+5G>C]

p.His461Pro

E5

3.5

9

intermediate

male

7y

7 m

HP, RG, SS, MR at age 5, ascites, hypoproteinemia, died at age 9 y

[c.4delC] + [c.688C>T]

p.Arg3AlafsX76 / p.Arg230Cys

E1 / E2

3.6

10

intermediate

male

5y

2y

HP, SS, RG, anemia, leucocytopenia, ascites, hypoproteinemia,MR at age 4, died at age 6 y, PF

[c.4delC] + [c.742G>T]

p.Arg3AlafsX76 / p.Glu248X

E1 / E2

3.4

11

intermediate

female

8y

8y

HP, moderate MR

c.1458T>G

p.Ser486Arg

E5

1.2

12

intermediate

male

2y

6 m

HP, RG

[c.4delC] +[c.1458T>G]

p.Arg3AlafsX76 / p.Ser486Arg

E1 / E5

3.8

13

B

male

6y4m

1y

HP, SS, RG, anemia

[c.688C>T] + [c.1288C>T]

p.Arg230Cys / p.Pro430Ser

E2 / E4

0

14

B

male

1y10m

1y

HP, RG

[c.1026G>T] +[1492C>T]

p.Trp342Cys / p.Arg498Cys

E2 / E5

0

15

B

female

1y8m

after birth

HP, PF

[c.1095-1096insG] +[c.748A>C; c.1411G>A]

p.Phe368ValfsX22 / (p.Ser250Arg; p.Glu471Lys)

E3 /(E2;E5)

5.9

16

B

female

22y

22y

amenorrhea, pancytopenia, HP

[c.1144C>T] +[c.1565A>G]

p.Leu382Phe / p.Asn522Ser

E3 / E6

3.1

17

B

male

1y3m

10 m

HP

[c.4delC]+[c.4delC]

p.Arg3AlafsX76 /p.Arg3AlafsX76

E1 / E1

3.6

18

B

male

13y

2y

HP

[c.1458T>G] +[c.1675G>T]

p.Ser486Arg/ p.Val559Leu

E5 / E6

5.6

19

B

female

46y

unknown

HP, splenectomy at age 46 years,PF

[c.1565A>G] +[c.1565A>G]

p.Asn522Ser / p.Asn522Ser

E6 / E6

7.3

20

B

female

2y

1y

HP, RG

[c.759C>A] + [c. 1351 A >C]

p.Glu253Asp/ p.Thr451Pro

E2 /E5

2.75

21

B

female

3y

1y

HP, microproteinuria

undetected

2.4

22

B

female

3y7m

after birth

diarrhea, HP, PF

[c.4delC]+[c.4delC]

p.Arg3AlafsX76 / p.Arg3AlafsX76

E1 / E1

4.8

23

B

female

1y8m

after birth

HP

[c.147-150del4] +[c.1144C>T]

p.Ser50ThrfsX26 / p.Leu382Phe

E1 / E3

2

24

B

male

7y6m

7y

HP, RG, SS

[c.4delC]+[c.4delC]

p.Arg3AlafsX76 / p.Arg3AlafsX76

E1 / E1

1.4

25

B

female

12y

10 m

HP, proteinuria, ascites, RG, splenectomy at age 9, died at age 13

c.1006G>A

p.Gly336Ser

E2

4.9

26

B

female

2y4m

2y

HP, anemia

[c.1286C>T] +[c.1451C>T]

p.Pro429Leu / p.Ala484Val

E4 / E5

3.1

27

B

female

1y

1y

HP, anemia

[c.1307-1312dup6] + [c.1497-1498GT>AC]

p.436-437dup2 / p.Tyr500His

E4 / E6

3