The Spectrum of NF1 Gene Variations in Southeastern Turkey

INTRODUCTION: Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. Pathogenic variations of the NF1 gene are responsible for the NF1 phenotype. We aim to expand the variant spectrum of the NF1 gene.
METHODS: In this study, clinical and molecular manifestations of 92 molecularly confirmed NF1 patients from 86 unrelated families were presented. Next generation sequencing method (Using Ion Torrent PGM™ Platform) was performed for analyzing the whole coding exons of NF1 gene.
RESULTS: 76 different NF1 variations were identified that 27 of them were novel. 42.5% of the patients were familial and 57.5% were sporadic. Except for the 20-years-old patient with c.1637dupT variant who presented pilocytic astrocytoma without cutaneous findings, all the other patients demonstrated the several typical clinical criteria of NF1.
DISCUSSION AND CONCLUSION: Although NF1 diagnostic criteria are the most widely used and proficient clinical diagnostic tool, NF1 gene analysis can be applied as a definitive diagnostic tool in cases with atypical presentations and in early childhood.