The genetic landscape and possible therapeutics of neurofibromatosis type 2

Table 1 Neurofibromatosis type 2 (NF2) mutations based on location and their clinical manifestations [16, 26]

Mutation Type	Location	Mosaic^† mutation	Germline mutation
Truncating mutation	Exon 1	Moderate	Moderate-Severe
	Exon 2–13	Moderate-Severe	Severe
	Exon 14–15	Moderate	Moderate-Severe
Splice site mutation	Exon 1–7 (in frame)	Mild	Moderate
	Exon 1–7 (frameshift)	Moderate	Moderate-Severe
	Exon 8–13 (in frame)	Mild	Moderate
	Exon 8–13 (frameshift)	Moderate	Moderate-Severe
	Exon 14–17	Mild	Moderate
Large and small deletions	Small in-frame deletion or duplication	Very mild phenotype	Mild
	Large deletion (> 1 exon) including promoter or exon 1
	Maintaining reading frame	Very mild phenotype	Mild
	causing frameshift alteration	Mild	Moderate
	Whole NF2 gene	Mild	Moderate
	Large deletion (> 1 exon) excluding promoter or exon 1
	Maintaining reading frame	Very mild phenotype	Mild
	Causing frameshift alteration	Mild	Moderate
Missense variants		Very mild phenotype	Mild

^†NF2 gene pathogenic variant in an unaffected tissue such as blood saliva samples with variant allele frequency < 50%

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