Table 1. Clinical features of 14 subjects from six families with c.5425C>T change in NF1.
| Cases | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Features | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 | |||||||||
| I:2 | II:2 | III:1 | I:1 | II:3 | II:4 | III:2 | III:7 | I:1 | II:2 | III:1 | Total | ||||
| Age (years) at observation | 17 | 16 | 10 | 54 | 35 | 6 | 87 | 65 | 62 | 29 | 21 | 60 | 39 | 3.3 | |
| Sex | M | M | F | F | F | M | F | M | F | F | F | M | F | F | 5M/9F |
| CaLS | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | 14/14 (100%) |
| Freckling | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | 9/10 (90%) | ||||
| Lish nodules | No | No | No | No | No | No | No | No | No | No | 0/10 (0%) | ||||
| Cutaneous neurofibromas | No | No | No | No | No | No | No | No | No | No | No | No | No | 0/13 (0%) | |
| Subcutaneous neurofibromas | No | No | No | No | No | No | No | No | No | No | No | No | No | 0/13 (0%) | |
| External plexiform neurofibromas | No | No | No | No | No | No | No | No | No | No | No | No | No | 0/13 (0%) | |
| Spinal neurofibromas | No | 0/1 (0%) | |||||||||||||
| Optic pathway glioma | Noa | No | No | No | No | Noa | No | Noa | No | Noa | No | 0/11 (0%) | |||
| Short stature | No | No | No | Yes | No | No | No | No | No | No | 1/10 (10%) | ||||
| Macrocephaly | Yes | No | Yes | No | No | No | No | No | No | No | 2/10 (20%) | ||||
| Other neoplasias | No | No | No | No | No | No | No | No | No | No | No | 0/11 (0%) | |||
| Thoracic anomalies | PE | PE, SW | PE | No | No | No | No | No | No | No | No | 3/11 (27%) | |||
| Learning problems | No | Yes | No | No | No | No | No | No | No | No | No | No | No | 1/13 (8%) | |
| Scoliosis | No | Yes | No | No | No | No | No | No | Yes | No | 2/10 (20%) | ||||
| Pulmonary valve stenosis | No | No | No | No | No | No | No | No | No | No | 0/10 (0%) | ||||
| NS features | P, TF, CP LSPRE | H, LSPRE, SN | LSE, P | LSE, H | No | No | No | No | No | 4/9 (44%) | |||||
| Others | No | MJL, SH, EEoE, FF, CD, NoPVF | No | No | No | No | No | No | No | ||||||
Abbreviations: CD, celiac disease; CP, close palate; EEoE, easy extensibility of the ears; F, female; FF, flat feet; H, Hypertelorism; LSE, low set ears; LSPRE, low set posteriorly rotated ears; M, male; MJL, mild joint laxity; NoPVF, narrowing of the peripheral nasal visual field; NS, Noonan syndrome; P, ptosis; PE, pectus excavatum; SH, skin hyperelasticity; SN, short neck; SW, scapular winging; TF, triangular face.
a
Absent on MRI scanning of the brain.