Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions

Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients. This genotype –phenotype correlation highlights the need for a detailed molecular description. A droplet digital PCR (ddPCR) set along the NF1 locus was designed to delimitate the three recurrent NF1 deletion breakpoints.

Source: Journal of Molecular Diagnostics - November 24, 2023 Category: Pathology Authors: Laurence Pacot, Manuela Ye, Juliette Nectoux, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Th éodora Maillard, Cécile Barbance, Lucie Orhant, Nicolas Vaucouleur, Hélène Blanché, Béatrice Parfait, Pierre Wolkenstein, Michel Vidaud, EURON Tags: Regular article Source Type: research