Table 2 Study Participant Characteristics
From: Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study
Patient ID | Sex | Enrollment Age Range | Months Evaluated | NF1 Variant | Inheritance |
|---|---|---|---|---|---|
1 | F | 60–69 | 96 | c.4267A > G (p.K1423E) | Sporadic |
2 | F | 60–69 | 96 | c.60 + 1G > A | Sporadic |
3 | F | 50–59 | 96 | c.204 + 1G > A | Familial |
4 | M | 50–59 | 96 | c.5453delT | Familial |
5 | M | 30–39 | 96 | c.2693 T > C (p.L898P) | Familial |
6 | M | 40–49 | 24 | c.3113 + 1G > A | Sporadic |
7 | F | 40–49 | 96 | c.1527 + 1167C > G | Sporadic |
8 | F | 30–39 | 24 | c.3379delA | Familial |
9 | M | 30–39 | 24 | c.288 + 1G > T | Familial |
13 | F | 40–49 | 24 | c.2446C > T (p.R816X) | Familial |
14 | M | 60–69 | 96 | c.2041C > T (p.R681X) | Familial |
15 | F | 40–49 | 24 | c.2044C > T (p.Q682X) | Familial |
16 | M | 70–79 | 24 | c.1536dupA | Sporadic |
18 | M | 40–49 | 96 | c.3639_3641delAAT | Familial |
19 | M | 50–59 | 96 | c.7127-4insAlu | Familial |
20 | M | 40–49 | 96 | c.1890_1918dupT | Sporadic |
21 | F | 30–39 | 96 | c.6662delC | Familial |
22 | M | 60–69 | 96 | c.6138dupT | Familial |
23 | F | 40–49 | 24 | c.7519C > T (p.Q2507X) | Sporadic |
24 | F | 60–69 | 24 | c.7806 + 1G > A | Familial |
25 | F | 30–39 | 96 | c.7486C > T (p.R2496X) | Familial |
26 | F | 60–69 | 96 | c.7486C > T (p.R2496X) | Familial |