TABLE 3.
Clinical features of patients with type-2 NF1 microdeletions.
| Clinical features of patients with type-1 | Presence or absence of the features in patients with “non-mosaic” | |||||
| NF1 microdeletions (frequency observed,%) | type-2 NF1 deletions | |||||
| Patients | n = 29 | n = 12 | 078 | P. 2429 | P. 2358 | 85/NF |
| Reference | Kehrer-Sawatzki et al., 2017 | This study | Zhang et al., 2015 | Roehl et al., 2010; Vogt et al., 2012 | Roehl et al., 2010; Vogt et al., 2012 | This study |
| CALs | 93% | 100% | + | + | + | + |
| Freckling | 86% | 83% | − | + | + | − |
| Lisch nodule | 93% | 25% | ? | + | + | + |
| Cutaneous neurofibromas | 86% | 8% | + | + (multiple) | − | − |
| Subcutaneous neurofibromas | 76% | 58% | + | + (multiple) | + | − |
| Plexiform neurofibromas | 76% | 17% | − | + (multiple) | + | − |
| Facial dysmorphism | 90% | 67% | − | + | + | − |
| Large hands and feet | 46% | 67% | N/A | + | + | + |
| Macrocephaly | 39% | 58% | − | + | + | + |
| Tall stature | 46% | 58% | N/A | − | − | − |
| Learning disabilities | 48% | 75% | ? | + | + (mild) | + |
| Attention deficits | 33% | 17% | ? | + | + | − |
| Scoliosis | 43% | 42% | + | − | N/A | + |
| Hyperflexibility of the joints | 72% | 8% | N/A | + | + | − |
| MPNST | 21% | 17% | − | + | − | − |
| T2 hyperintensities | 45% | 75% | N/A | − | + | + |
| Muscular hypotonia | 45% | 25% | N/A | N/A | + | − |
| Congenital heart defects | 21% | 0% | N/A | + | + | − |
−, absent; +, present; N/A, not assessed or no data available; ? unclear result from the original article. CALs, café-au-lait spots; MPNST, malignant peripheral nerve sheath tumors.