Table 5.
Genotype–phenotype correlations
| Patient | Intragenic mutation | Microdeletion type 1 | P‐value |
|---|---|---|---|
| Number | 179 | 11 | |
| Café‐au‐lait | 167 (93.3) | 11 (100) | NS |
| Freckles | 128 (71.5) | 8 (72.7) | NS |
| Lisch nodules | 84 (46.9) | 5 (45.5) | NS |
| Neurofibromas | 119 (66.5) | 5 (45.5) | NS |
| Plexiform neurofibromas | 29 (16.2) | 3 (27.3) | NS |
| Optic glioma | 34 (19) | 0 (0) | NA |
| Osseous lesion | 8 (4.5) | 0 (0) | NA |
| NF1 Familiar | 56 (31.3) | 0 (0) | NA |
| No minor feature | 66 (36.9) | 1 (9.1) | NS |
| Tumors | 28 (15.6) | 2 (18.2) | NS |
| Scoliosis | 28 (15.6) | 1 (9.1) | NS |
| Macroencephaly | 51 (28.5) | 5 (45.5) | NS |
| Short stature | 12 (6.7) | 1 (9.1) | NS |
| Learning disability | 24 (13.4) | 2 (18.2) | NS |
| Special education | 3 (1.7) | 0 (0) | NA |
| Mental retardation | 12 (6.7) | 4 (36.4) | 0.0006 |
| Speaking problems | 7 (3.9) | 0 (0) | NA |
| Behavior problems | 5 (2.8) | 0 (0) | NA |
| Epilepsy | 10 5.6) | 0 (0) | NA |
| Other | 38 (21.2) | 4 (36,4) | NS |
| Patient | Intragenic mutation | Missense mutation | P‐value |
|---|---|---|---|
| Number | 161 | 18 | |
| Café‐au‐lait | 150 (93.2) | 17 (94.4) | NS |
| Freckles | 115 (71.4) | 13 (72.2) | NS |
| Lisch nodules | 77 (47.8) | 7 (38.9) | NS |
| Neurofibromas | 110 (68.3) | 9 (50) | NS |
| Plexiform neurofibromas | 28 (17.4) | 1 (5.6) | NS |
| Optic glioma | 31 (19.3) | 3 (16.7) | NS |
| Osseous lesion | 8 (5) | 0 (0) | NA |
| NF1 Familiar | 51 (31.7) | 5 (27.8) | NS |
| No minor feature | 58 (36) | 8 (44.4) | NS |
| Tumors | 24 (14.9) | 4 (22.2) | NS |
| Scoliosis | 26 (16.1) | 2 (11.1) | NS |
| Macroencephaly | 48 (29.8) | 3 (16.7) | NS |
| Short stature | 11 (6.8) | 1 (5.6) | NS |
| Learning disability | 21 (13) | 3 (16.7) | NS |
| Special education | 3 (1.9) | 0 (0) | NA |
| Mental retardation | 11 (6.8) | 1 (5.6) | NS |
| Speaking problems | 7 (4.3) | 0 (0) | NA |
| Behavior problems | 5 (3.1) | 0 (0) | NA |
| Epilepsy | 9 (5.6) | 1 (5.6) | NS |
| Other | 32 (19.9) | 6 (33.3) | NS |
Parentheses values are expressed in percent. NS, nonstatistical significant; NA, not available.