Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 tumor suppressor gene, encoding neurofibromin. Pathogenic variants include point mutations, exon deletions, and splicing alterations, leading to diverse clinical manifestations, including central nervous system tumors. We analyzed cDNA from 32 pediatric and young adult patients, unaffected parents, and controls and observed the constant skipping of exon 38 in NF1 gene. This event, previously considered pathogenic, was detected in both affected and unaffected individuals, suggesting it is a normal alternative transcript rather than a disease-causing variant.