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%) |