The Spectrum of NF1 Gene Variations in Southeastern Turkey.
- Resource Type
- Article
- Authors
- Kırat, Emre; Albayrak, Hatice Mutlu
- Source
- Journal of Pediatric Research. Sep2021, Vol. 8 Issue 3, p286-296. 11p.
- Subject
- *GENETIC mutation
*SEQUENCE analysis
*GLIOMAS
*DESCRIPTIVE statistics
*NEUROFIBROMATOSIS 1
*PHENOTYPES
*MEDICAL coding
*SYMPTOMS
- Language
- ISSN
- 2147-9445
Aim: We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype. Materials and Methods: In this study, clinical and molecular manifestations of 92 molecularly confirmed NF1 patients from 86 unrelated families are presented. The next-generation sequencing method (using Ion Torrent PGM™ Platform) was performed to analyze all coding exons of the NF1 gene. Results: Seventy-six different NF1 variations were identified with 27 of them being novel. 42.5% of the patients were familial and 57.5% were sporadic. Except for one 20-year-old patient with c.1637dupT variant who presented with pilocytic astrocytoma without cutaneous findings, all the other patients demonstrated several typical clinical criteria of NF1. 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. [ABSTRACT FROM AUTHOR]