Table 1.
Clinical features of the seven patients from the two families harboring the p.Arg1038Gly variant
| Clinical features | Family 1 | Family 2 | |||||
|---|---|---|---|---|---|---|---|
| IV, 5 | IV,6 | III,5 | III,3 | II,3 | II,2 | III,1 | |
| Sex | F | M | F | M | F | M | F |
| Age (years) | 10 | 2 | 41 | 38 | 67 | 72 | 30 |
| >5 CALs >1.5 cma | + (>0.5 cm) | + (>0.5 cm) | + | + | + | + | + |
| Axillary/inguinal freckling | − | − | + (groin only) | − | − | − | + |
| Lisch nodules | − | − | − | n.a. | n.a. | n.a. | − |
| Cutaneous neurofibromas | − | − | − | − | − | − | − |
| Symptomatic neurofibromas | − | − | − | − | − | − | − |
| Diffuse plexiform neurofibromas | − | − | − | − | − | − | − |
| Optic pathway glioma | − | − | − | − | − | − | − (UBOs at brain MRI) |
| Short stature | − | − | − | − | − | − | + |
| Macrocephaly | − | + | − | + | − | − | + |
| Pulmonary valve stenosis | −c | −c | −c | − | − | − | −c |
| Facial NS featuresb | + | + | + | − | + | − | + |
| Learning disabilities | − | n.a. | − | − | − | − | − |
For each specific sign: "–" means absent, "+" present, "n.a." = not available.
a
In all patients CALs were diffuse.
b
Facial Noonan Syndrome (NS) features include hypertelorism with down–slanting palpebral fissures.
c
Normal cardiac ultrasound.