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Table 1 Demografic and clinical characteristics of the 138 patients with NF1 included in the study

From: Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Feature

Mild phenotype (n = 49)

Moderate (n = 43)

Severe phenotype (n = 46)

Whole cohort (n = 138)

Mean age (average)

21.1 years

(2.2–55.9 years)

14.6 years

(1.2–36.4 years)

12.9 years*

(0.6-53.5 years)

16.4 years

(0.60–55.90 years)

No mutation

N = 13

N = 8

N = 10

N = 30

Gender

M = 19; F = 30

M = 27; F = 16

M = 22; F = 24

M = 68; F = 70

CALMs

49 (100%)

43 (100%)

46 (100%)

138

Lisch nodules

18 (36.8%)

20 (46,5%)

25 (54.4%)

63 (45,6%)

Axillary and/or inguinal freckling

37 (75.5%)

37 (86.0%)

33 (71.8%)

107 (77,5%)

Plexiform neurofibroma

0 (0.0%)

9 (20.9%)

9 (19/6%)

18 (13%)

Mild non-progressive scoliosis

21 (42.9%)

20 (46.5%)

NA

41 (29,7%)

Progressive scoliosis

0 (0.0%)

18 (41.8%)

25 (54.4%)

43 (31,1%)

Heart involvement

7 (14.3%)

9 (20.9%)

12 (26.1%)

28 (20,2%)

OPG

0 (0.0%)

0 (0.0%)

27 (58.7%)

27 (19,5%)

Other tumors

0 (0.0%)

0 (0.0%)

17 (37.0%)

17 (12,3%)

Development delay and/or cognitive deficit

0 (0.0%)

0

28 (60.9%)

28 (20,2%)

  1. *for 45 living subjects; F females, M males, NA not available