Table 4 BRAF mutations in patients with RASopathies

Wu p001 (this study)

NF1 Exon 5,

c.492_495 del AACT/p.Val166fs

Café-au-lait spots, Cutaneous neurofibroma, left zygoms progressive enlargement

plexiform neurofibroma

BRAF Exon 1, c.74C > T/p.Pro25Leu

Wu p083 (this study)

NF1 Exon22, c.2953dupC/p.Gly984fs

Café-au-lait spots, unspecified cardiac anomaly, Lisch Nodules in the Iris, T-spine scoliosis

paraspinal plexiform neurofibroma

BRAF Exon 3, c. 316 G > A/p.Gly106Arg

Noonan syndrome (NS)

BRAF (T241 M; T241R; W531C; L597 V)

Short stature, dysmorphic facial features, mild-to-moderate cognitive deficits, skeletal anomalies, and hypotonia

Cardio-facio-cutaneous syndrome (CFCS)

BRAF (L245F; A246P; T241P; Q257R; G469E; etc)

Dysmorphic facies, cardiac defects, and skin and skeletal anomalies

Leopard syndrome Type 3

BRAF (T241P; L245F)

Craniofacial anomalies, short and webbed neck, cardiac conduction defects, Multiple pigmented skin lesions and showed growth retardation, delayed puberty, and delayed bone age.

undetected