Table 3. Phenotypic features reported in individuals carrying PTPN11 p.R498W variant.
| Sarkozy et al.16 | Sarkozy et al.16 | Digilio et al.34 | Kratz et al.15 | Edwards et al.14 | Proband 713 | |
|---|---|---|---|---|---|---|
| Cardinal Features of Noonan/LEOPARD syndrome | 2 yo, F | 34 yo, F | <1 yo, n.a. | 1 < yo, M | 5 yo, M | 4 yo, M |
| Multiple Lentigines | − | − | + | n.a. | − | − |
| Cardiac abnormalities, particularly hypertrophic cardiomyopathy | +(h.c.m.) | +(h.c.m.) | +(h.c.m.) | +(h.c.m.) | +(pulmonic valve stenosis) | − |
| Poor linear growth/short stature | n.a. | n.a. | + | n.a. | + | − (height is at the 50th centile) |
| Pectus deformity | n.a. | n.a. | n.a. | − | +(mild pectus deformity) | − |
| Dysmorphic facial features, including widely spaced eyes and ptosis | + | + | n.a. | − | +(mild dysmorphic facial features) | mild dysmorphic facial features (hypertelorism and low set posteriorly rotated ears) |
| Additional features occurring frequently in LEOPARD syndrome | ||||||
| Variable degree of cognitive deficits | + | + | n.a. | n.a. | +(mild global developmental delay) | − |
| Sensorineural hearing loss | − | − | − | − | − | + |
| Cryptorchidism | n.a.* | n.a.* | n.a. | n.a. | + | − |
| Skeletal anomalies | n.a. | n.a. | n.a. | − | n.a. | − |
| Café-au-lait macules | + | − | + | n.a. | − | − |
| Other Information | − | Patient 1’s mother | − | Died at 2 months with juvenile myelomonocytic leukemia | − | − |
n.a.: not available, n.a.*: not applicable, h.c.m.: hypertrophic cardiomyopathy, yo: years old, M: Male, F: Female.