Germline <i>NF2</i> variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis

Abstract excerpt

<h4>Purpose</h4> Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is an autosomal dominant tumor syndrome with complete penetrance and variable expressivity. Underlying patterns of disease burden and severity are largely unexplained. <h4>Methods</h4> We comprehensively phenotyped 168 NF2-SWN patients over a mean duration of 4.5 years. We used a custom sequencing panel of NF2 and schwannomatosis genes...

Topics

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• Age Factors
• Genes, Neurofibromatosis 2
• Hearing Loss
• Mutation
• Neurofibromatosis 2
• Phenotype
• Quality of Life
• Severity of Illness Index

Identifiers and source

Literature Corpus work

09d69394-0cfb-589d-ba0d-9f61a9ca6ad4

DOI

10.64898/2026.07.27.26359036