Table 2 Detailed clinical information of the 40 NF1 individuals included in this study
ID | Age | Sex | Size | HC | cNF | pNF | CL | F | LN | G | Osseous | FH | Neurocognitive | Education | Others | AS | RS | Genetic variant |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 28 | M | 165 | 59.5 | 0 | Sacral plexus | X | X | X | 0 | Scoliosis | 0 | Vocational | Hemihypertophia, pruritus | 3 | 3 | c.6367G > T, p.E2123X NM_000267.3 | |
2 | 53 | M | 169.5 | 54 | X | 0 | X | X | X | 0 | Scoliosis | X | TDAH, LD | No studies | Pheocromocitoma, pruritus | 2 | 3 | NA |
3 | 34 | F | 158.5 | 57 | X | Popliteal | X | X | X | 0 | S. scoliosis | X | LD | Vocational | Ophtalmic aneurysm, myomas, pruritus | 3 | 2 | c.4084 C > T; p.(Arg1362*) NM_000267.3 |
4 | 60 | M | 185 | 62 | X | 0 | X | 0 | X | 0 | S. scoliosis | X | 0 | - | 0 | 2 | 3 | NA |
5 | 22 | F | 171 | 60 | X | Back | X | X | X | 0 | 0 | 0 | 0 | University | Dizziness, Wolf-Parkinson-White, pruritus | 2 | 2 | c.2379delC,p.(Asn793fs*28) NM_001042492.2 |
6 | 21 | M | 170 | 60 | 0 | 0 | X | X | X | 0 | Scoliosis | X | 0 | University | Hydrocephaly | 1 | 2 | c.7012_7014del, p.(Leu2338del) NM_001042492.2 |
7 | 54 | M | 170 | 59 | X | Para-tracheal | X | NC | 0 | 0 | 0 | 0 | LD, AD | University | Insomnia | 3 | 3 | c.7012_7014del, p.(Leu2338del) NM_001042492.2 |
8 | 46 | M | 174.5 | 56.5 | 0 | 0 | 0 | X | X | 0 | 0 | 0 | TDAH | Vocational | 0 | 1 | 1 | NA |
9 | 80 | M | 147 | 58 | X | 0 | X | X | - | 0 | 0 | 0 | 0 | Primary | Dizziness, headache, pruritus, GIST | 2 | 3 | NA |
10 | 22 | F | 167 | 52.5 | X | 0 | X | X | 0 | 0 | 0 | 0 | LD, AD | Vocational | Sleeping troubles, asthenia | 1 | 2 | NA |
11 | 21 | F | 160 | 57 | 0 | 0 | X | X | X | 0 | Scoliosis | 0 | 0 | Vocational | Sleeping troubles, asthenia, hypopigmented macules | 2 | 1 | NA |
12 | 22 | F | 160 | 58 | X | Sacral plexus | X | X | 0 | 0 | 0 | 0 | LD, AD | No studies | Headache | 2 | 3 | c.1149 C > A,p.(Cys383*) NM_001042492.2 |
13 | 25 | M | 169.5 | 58 | X | 0 | X | X | X | 0 | Scoliosis | X | LD, TDAH | Secondary | 0 | 2 | 2 | NA |
14 | 48 | F | 154 | 55 | X | 0 | X | X | X | 0 | Scoliosis | X | 0 | Primary | 0 | 3 | 3 | NA |
15 | 34 | M | 162 | 59 | X | 0 | X | X | X | 0 | S.Kypho-scoliosis | X | 0 | Vocational | Pruritus | 2 | 3 | c.574 C > T,p.(Arg192*) NM_000267.3 |
16 | 57 | M | 162 | 58.5 | X | Facial | X | X | X | 0 | 0 | 0 | 0 | Secondary | Sleeping troubles, headache | 3 | 3 | NA |
17 | 17 | M | 161.5 | 54.5 | 0 | 0 | X | X | 0 | 0 | 0 | 0 | LD, TDAH | Primary | Hypofisis cyst | 1 | 1 | Typical 1.4 Mb NF1 deletion |
18 | 51 | M | 170 | 59 | X | 0 | X | X | 0 | 0 | Kypho-scoliosis | 0 | LD | Primary | Puritus, Headache, dizziness, meningioma | 2 | 2 | NA |
19 | 44 | F | 163 | 60 | X | 0 | X | X | X | X | S. scoliosis | 0 | 0 | - | Hydrocephaly, pruritus, myomas, sleeping troubles | 3 | 4 | NA |
20 | 34 | F | 155.4 | 55.6 | X | 0 | X | X | X | 0 | 0 | X | AD | - | Hypopigmented macules | 1 | 2 | c.6100dup, p.(Thr2034Asnfs*26) NM_001042492.2 |
21 | 42 | M | 191 | 59 | X | Ankle | X | X | X | X | Tibial dysplasia S. scoliosis | 0 | 0 | Vocational | Limb length difference, cerebral artery hypoplasia, pruritus sleeping troubles | 3 | 3 | c.5606T > G,p.(Leu1869*) NM_001042492.2 |
22 | 61 | M | 165.9 | 59.3 | X | Gluteal | X | X | X | 0 | S. scoliosis | X | 0 | - | Dizziness | 2 | 2 | NA |
23 | 42 | F | 172.5 | 57 | X | 0 | X | 0 | - | 0 | 0 | 0 | 0 | University | 0 | 3 | 2 | NA |
24 | 43 | M | 163 | 56 | X | Right arm | X | X | - | 0 | S. scoliosis | 0 | Hyperactivity | Vocational | 0 | 2 | 2 | c.1986delA, p.(Asn664Thrfs*24) NM_001042492.2 |
25 | 21 | F | 151.5 | 54 | X | Sacral plexus | X | X | 0 | X | Scoliosis | X | 0 | Vocational | Pruritus, Dizziness | 3 | 4 | NA |
26 | 55 | F | 155 | 52.5 | X | Sacral plexus | X | X | X | 0 | 0 | X | LD, AD | No studies | Vertigo | 1 | 2 | NA |
27 | 56 | F | 156 | 56 | X | 0 | X | X | X | 0 | 0 | X | 0 | - | Pruritus | 2 | 2 | c.574 C > T,p.(Arg192*) NM_000267.3 |
28 | 43 | F | 149 | 56 | X | 0 | X | X | X | 0 | 0 | 0 | 0 | University | Myomas, pruritus | 1 | 2 | NA |
29 | 63 | F | 144 | 51 | X | 0 | X | X | X | 0 | Scoliosis | X | TDAH, LD | No studies | Myomas, sleeping troubles, headache | 3 | 3 | c.3826 C > T,p.(Arg1276*) NM_001042492.2 |
30 | 53 | F | 143.5 | 53 | X | 0 | X | X | X | 0 | 0 | X | LD | No studies | Insomnia, asthenia depression, pruritus | 3 | 3 | c.3826 C > T,p.(Arg1276*) NM_001042492.2 |
31 | 26 | F | 152.3 | 50.5 | 0 | Facial, brachial plexus | X | X | 0 | 0 | 0 | X | LD, AD | University | Headache, hypopigmented macules | 3 | 3 | NA |
32 | 32 | M | 173.4 | 50 | X | 0 | X | X | X | 0 | 0 | 0 | LD, mild ID | Vocational | 0 | 2 | 3 | c.7211del, p.(Ala2404Valfs14) NM_001042492.2 |
33 | 76 | M | 154 | 58 | X | Occipital | X | X | X | 0 | 0 | 0 | LD | No studies | Dizziness, pruritus | 2 | 2 | NA |
34 | 45 | F | 148 | 52.5 | X | 0 | X | X | X | 0 | S. scoliosis | X | TDAH | No studies | Headache uterine polype, dizziness, depression, pruritus sleeping troubles | 3 | 3 | NA |
35 | 35 | M | 164 | 61 | 0 | 0 | X | X | X | 0 | 0 | 0 | 0 | - | Vertigo | 1 | 1 | NA |
36 | 22 | M | 165.5 | 57.7 | X | Lumbo-sacreal | X | X | 0 | 0 | Sphenoid dysplasia | X | 0 | Vocational | 0 | 3 | 3 | NA |
37 | 58 | F | 164 | 55.5 | X | 0 | X | X | X | 0 | 0 | X | 0 | Primary | Ca mama y colon, headache, dizziness, myomas | 3 | 4 | c.6792 C > G,p.(Tyr2264*) NM_000267.3 |
38 | 28 | F | 161 | 58 | X | Temporal | X | X | X | X | Sphenoiddysplasia Kypho-scoliosis | X | 0 | No studies | Dizziness, headache | 3 | 3 | c.6792 C > G,p.(Tyr2264*) NM_000267.3 |
39 | 29 | F | 142 | 54 | X | Breast, lumbo-sacreal | X | X | X | 0 | 0 | 0 | 0 | Vocational | Dizziness, depression, sleeping troubles | 2 | 3 | c.6709 C > T,p.(Arg2237*) NM_000267.3 |
40 | 35 | F | 156 | 56 | 0 | Abdominal | X | X | 0 | 0 | C.Scoliosis | X | 0 | Vocational | 0 | 1 | 2 | NA |