From: The genetic landscape and possible therapeutics of neurofibromatosis type 2
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 | Â | Very mild phenotype | Mild |