Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. About 4-11% of NF1 patients have a NF1 locus complete deletion resulting from non-allelic homologous recombination between low copy repeats. Co-deleted 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. We designed a digital droplet PCR (ddPCR) set along the NF1 locus 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