Comment: Genotype-phenotype correlations in NF1: A case for routine genetic testing.

Abstract

Neurofibromatosis 1 (NF1), a genetic syndrome with a prevalence of 1/1,000–1/3,500 people, predisposes to intellectual disability, social–behavioral and learning problems, and tumors. Although the NF gene was identified in 1990, genotypic–phenotypic correlations have proven elusive. Known correlations include deletion of the entire NF1 gene (severe phenotype), missense mutations (spinal neurofibromatosis) and exon 17 base pair in-frame deletion c.2970-2972 (mild phenotype), and clustering of mutations in the 5′-end in patients with optic pathway gliomas.1 Clinicians and researchers alike would benefit from better mutation predictors of clinical outcomes, not only for streamlining appropriate surveillance and intervention, but to direct research, both tumoral and cognitive.