TABLE 1.
Clinical features of our patients with different type of NF1 microdeletions.
|
Deletion type |
Type 1 |
Type 1 |
Type 2 |
Atypical |
||||||||||||||
| Applied method |
aCGH |
MLPA |
aCGH | aCGH |
MLPA |
|||||||||||||
| Patients | 68/NF | 115/NF | 255NF | 428NF | 467/2016 | 532/NF | 629/NF | 761/NF | 9/NF | 271/NF | 387/NF | 483/NF | 85/NF | 556/NF | 125/NF | 134/NF | 260/NF | |
| Gender | M | F | M | M | F | M | F | M | M | M | F | M | F | M | F | F | M | |
| Age of onset | 26 y | 5 mo | at birth | at birth | N/A | 12 y | at birth | at birth | at birth | at birth | at birth | 5 y | 1 mo | 6.5 y | at birth | 3 y | at birth | |
| Age at examination | 36 y | 9 y | 14 y | 5 y | 9 y | 14 y | 4.5y | 9 y | 21 y | 4 y | 17 y | 7.5 y | 13 y | 10 y | 2 y | 40 y | 8 y | |
| Dysmorphic features | Facial dysmorphism | X | X | X | X | - | X | X | - | X | - | - | X | - | - | - | - | X |
| Hypertelorism | X | X | X | X | - | X | X | - | - | - | - | X | - | - | - | X | X | |
| Facial asymmetry | - | - | - | - | - | X | - | X | X | - | - | - | - | - | - | - | - | |
| Coarse face | X | - | X | X | - | X | X | X | X | - | - | X | X | - | - | - | - | |
| Broad neck | - | - | X | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |
| Large hands, feet | - | X | X | X | - | X | X | X | X | - | - | X | X | - | - | - | - | |
| Skin manifestations | CALs | X | X | X | X | X | X | X | X | X | X | X | X | X | X | X | X | X |
| Freckling | - | X | X | X | X | - | X | X | X | X | X | X | - | X | X | - | X | |
| Excess soft tissue | - | - | X | X | - | - | X | - | X | - | - | - | X | - | - | - | - | |
| SBC neurofibromas | X | X | X | X | - | - | - | X | - | X | X | - | - | - | - | X | - | |
| CT neurofibromas | - | - | - | - | - | - | - | - | X | - | - | - | - | - | - | - | - | |
| PL neurofibromas* | - | - | - | - | - | - | - | - | X | - | X | - | - | - | - | - | - | |
| Education and behavior problems | SDiCD | X | - | X | X | X | X | X | X | X | - | - | X | - | - | - | - | X |
| Learning difficulties | X | - | X | - | X | X | X | X | X | - | X | X | X | - | - | - | - | |
| Speech difficulties | - | - | X | X | X | X | X | X | - | - | X | X | - | - | - | - | - | |
| IQ < 70 | - | - | - | – | - | - | - | - | X | - | - | - | - | - | - | - | - | |
| ADHD | - | - | - | X | - | - | - | - | X | - | - | - | - | - | - | - | - | |
| Skeletal manifestations | Skeletal anomalies | X | X | X | X | X | X | X | X | X | X | X | - | X | X | X | X | X |
| Scoliosis | X | - | X | - | - | X | - | - | X | X | - | - | X | - | - | X | - | |
| Pectus excavatum | - | X | - | X | - | X | - | - | X | X | - | - | - | - | X | - | X | |
| Bone cysts | X | n.d. | - | n.d. | n.d. | - | - | - | - | - | - | - | - | - | - | - | - | |
| Joint hyperflexibility | - | - | - | X | - | - | - | - | - | - | - | - | - | - | - | - | - | |
| Macrocephaly | - | X | X | X | X | - | X | X | - | - | X | - | X | - | - | - | X | |
| Neurological manifestations | Muscular hypotonia | X | - | X | - | - | - | - | X | - | - | - | - | - | - | - | - | - |
| Headache | - | - | - | X | - | - | - | - | - | - | - | - | - | - | - | - | - | |
| Coordination problem | - | - | X | X | X | - | - | X | - | - | - | - | - | - | - | - | - | |
| MPNST | X | - | - | - | - | - | - | - | - | - | X | - | - | - | - | - | - | |
| Spinal neurofibromas | - | n.d. | n.d. | n.d. | - | - | n.d. | X | - | - | X | - | n.d. | - | - | n.d. | n.d. | |
| T2 hyperintensities | X | X | X | X | - | - | X | X | X | X | X | X | X | - | X | n.d. | X | |
| Ocular manifestations | Visual disturbance | - | - | - | - | - | X | - | - | - | - | X | - | X | - | - | - | - |
| Lisch nodules | - | - | X | - | - | - | - | - | X | - | X | - | X | - | - | - | - | |
| Strabismus | - | - | - | - | - | X | - | - | - | - | - | X | - | - | - | - | - | |
| OPG | - | - | - | - | - | - | X | - | - | - | X | - | - | X | - | - | X | |
| Development. problems | Tall stature | - | X | X | - | - | X | X | X | X | - | X | - | - | - | - | - | - |
CALs, café-au-lait spots; CT/SBC/PL, cutaneous/subcutaneous/plexiform neurofibroma; SDiCD, significant delay in cognitive development; ADHD, Attention deficit hyperactivity disorder; MPNST, malignant peripheral nerve sheath tumors; OPG, Optic Pathway Gliomas. * means externally observable plexiform neurofibroma. -, absent; X, present, n.d., not determined.