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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

1 Apr 2025

Abstract excerpt

Loss of function variants in the NF1 gene cause neurofibromatosis type 1, a genetic disorder characterized by complete penetrance, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is based on patients ascertained through phenotype-first approaches, which estimate prevalence at 1 in 3000. Leveraging a genotype-first approach in...

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PMID: 40169570
DOI: 10.1038/s41467-025-57077-1

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