High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach was evaluated in 1917 unrelated Korean individuals with clinically suspected NF1. The process began with targeted sequencing of blood-derived genomic DNA, followed by reflex multiplex ligation-dependent probe amplification for copy number variants and a lesional tissue test for suspected mosaicism.