Table 2 Genetic mutations reported in pediatric cases.

From: Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review

 

Number of studies (S = 58)

Number of cases (C = 155)

Inheritance

Confirmed mutation in family

De novo

Not reported

Non-SCN9A gene mutations

5 (8.6)

11 (7.1)

   

 MEFVa

1 (1.7)

3 (1.9)

   

  A457V

1 (1.7)

1 (0.6)

1 (100)

0

0

  E148Q

1 (1.7)

2 (1.3)

1 (50.0)

0

1 (50.0)

  M694V

1 (1.7)

1 (0.6)

1 (100)

0

0

  P369S

1 (1.7)

1 (0.6)

1 (100)

0

0

  R408Q

1 (1.7)

1 (0.6)

1 (100)

0

0

 NMNAT2

1 (1.7)

2 (1.3)

   

  T94M

1 (1.7)

2 (1.3)

2 (100)

0

0

 TRPV3

3 (5.2)

6 (3.9)

   

  G568C

2 (3.4)

4 (2.6)

4 (100)

0

0

  L673F

2 (3.4)

2 (1.3)

0

2 (100)

0

  Q216_G262del

1 (1.7)

2 (1.3)

2 (100)

0

0

SCN9A gene mutations

53 (91.4)

144 (92.9)

   

 A1632G

1 (1.7)

1 (0.6)

1 (100)

0

0

 A1632T

2 (3.4)

2 (1.3)

2 (100)

0

0

 A1746G

1 (1.7)

1 (0.6)

0

1 (100)

0

 A863P

1 (1.7)

1 (0.6)

0

1 (100)

0

 F1449V

5 (8.6)

26 (16.8)

24 (92.3)

0

2 (7.7)

 F216S

4 (6.9)

4 (2.6)

1 (1.3)

1 (1.3)

2 (50.0)

 F826Y

2 (3.4)

4 (2.6)

4 (100)

0

0

 G236W

1 (1.7)

1 (0.6)

0

1 (100)

0

 G856D

1 (1.7)

1 (0.6)

0

0

1 (100)

 G856R

1 (1.7)

2 (1.3)

2 (100)

0

0

 I136V

5 (8.6)

9 (5.8)

2 (22.2)

0

7 (77.8)

 I234T

3 (5.2)

3 (1.9)

0

3 (100)

0

 I848T

10 (17.2)

11 (7.1)

3 (27.3)

3 (27.3)

5 (45.5)

 L245V

2 (3.4)

10 (6.5)

4 (40.0)

0

6 (60.0)

 L823R

1 (1.7)

1 (0.6)

0

0

1 (100)

 L858F

7 (12.1)

11 (7.1)

6 (54.5)

1 (9.1)

4 (36.4)

 L858H

2 (3.4)

2 (1.3)

2 (100)

0

0

 L869F

1 (1.7)

1 (0.6)

0

1 (100)

0

 L951I

1 (1.7)

1 (0.6)

0

1 (100)

0

 L955del

1 (1.7)

1 (0.6)

1 (100)

0

0

 N395K

2 (3.4)

3 (1.9)

3 (100)

0

0

 P1308L

2 (3.4)

2 (1.3)

0

0

2 (100)

 P610Tb

1 (1.7)

1 (0.6)

1 (100)

0

0

 Q10R

1 (1.7)

1 (0.6)

0

1 (100)

0

 Q875E

3 (5.2)

3 (1.9)

0

2 (66.7)

1 (33.3)

 R1150W

1 (1.7)

1 (0.6)

1 (100)

0

0

 R220P

1 (1.7)

7 (4.5)

2 (28.6)

0

5 (71.4)

 S241T

4 (6.9)

10 (6.5)

9 (90.0)

0

1 (10.0)

 S449Nc

1 (1.7)

1 (0.6)

0

1 (100)

0

 V1316A

6 (10.3)

6 (3.9)

1 (16.7)

2 (33.3)

3 (50.0)

 V400M

4 (6.9)

11 (7.1)

8 (72.7)

1 (9.1)

2 (18.2)

 V872G

1 (1.7)

1 (0.6)

0

0

1 (100)

 Unknown variant

3 (5.2)

6 (3.9)

0

0

6 (100)

  1. Data presented as n (%).
  2. SCN9A Sodium voltage-gated channel alpha subunit 9, MEFV Mediterranean fever, NMNAT2 Nicotinamide nucleotide adenylyltransferase 2, TRPV3 Transient receptor potential vanilloid-3.
  3. aOne case had the A457V, E148Q, P369S, and R408Q variants.
  4. bP610T variant was present in a case with the L858F variant.
  5. cS449N variant was present in a case with the I848T variant.
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