Fig. 2.

Disease course in 3 males with full constitutional pathogenic variants in NF2 all born in the same calendar year. Patient A has an inherited missense variant c.1604T>C, p.leu535pro, patient B inherited a large NF2 deletion from intron 1 to exon 10, and patient C had a de novo constitutional truncating (nonsense) variant c.1219C>T p.Gln407*. Patient A is still well and asymptomatic in 2020 with no operations or radiation treatment. Patient B has had bilateral VS surgery but is otherwise well, whereas patient C died in 2004 aged 23 years. Treatment highlighted in bold italics. Abbreviations: VS, vestibular schwannoma; ABI, auditory brainstem implant; ONM, optic nerve meningioma.