The Spectrum of NF1 Gene Variations in Southeastern Turkey
Yıl: 2021 Cilt: 8 Sayı: 3 Sayfa Aralığı: 286 - 296 Metin Dili: İngilizce DOI: 10.4274/jpr.galenos.2021.03379 İndeks Tarihi: 21-01-2022
The Spectrum of NF1 Gene Variations in Southeastern Turkey
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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| APA | KIRAT E, Mutlu Albayrak H (2021). The Spectrum of NF1 Gene Variations in Southeastern Turkey. , 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| Chicago | KIRAT Emre,Mutlu Albayrak Hatice The Spectrum of NF1 Gene Variations in Southeastern Turkey. (2021): 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| MLA | KIRAT Emre,Mutlu Albayrak Hatice The Spectrum of NF1 Gene Variations in Southeastern Turkey. , 2021, ss.286 - 296. 10.4274/jpr.galenos.2021.03379 |
| AMA | KIRAT E,Mutlu Albayrak H The Spectrum of NF1 Gene Variations in Southeastern Turkey. . 2021; 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| Vancouver | KIRAT E,Mutlu Albayrak H The Spectrum of NF1 Gene Variations in Southeastern Turkey. . 2021; 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| IEEE | KIRAT E,Mutlu Albayrak H "The Spectrum of NF1 Gene Variations in Southeastern Turkey." , ss.286 - 296, 2021. 10.4274/jpr.galenos.2021.03379 |
| ISNAD | KIRAT, Emre - Mutlu Albayrak, Hatice. "The Spectrum of NF1 Gene Variations in Southeastern Turkey". (2021), 286-296. https://doi.org/10.4274/jpr.galenos.2021.03379 |
| APA | KIRAT E, Mutlu Albayrak H (2021). The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research, 8(3), 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| Chicago | KIRAT Emre,Mutlu Albayrak Hatice The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research 8, no.3 (2021): 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| MLA | KIRAT Emre,Mutlu Albayrak Hatice The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research, vol.8, no.3, 2021, ss.286 - 296. 10.4274/jpr.galenos.2021.03379 |
| AMA | KIRAT E,Mutlu Albayrak H The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research. 2021; 8(3): 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| Vancouver | KIRAT E,Mutlu Albayrak H The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research. 2021; 8(3): 286 - 296. 10.4274/jpr.galenos.2021.03379 |
| IEEE | KIRAT E,Mutlu Albayrak H "The Spectrum of NF1 Gene Variations in Southeastern Turkey." The Journal of Pediatric Research, 8, ss.286 - 296, 2021. 10.4274/jpr.galenos.2021.03379 |
| ISNAD | KIRAT, Emre - Mutlu Albayrak, Hatice. "The Spectrum of NF1 Gene Variations in Southeastern Turkey". The Journal of Pediatric Research 8/3 (2021), 286-296. https://doi.org/10.4274/jpr.galenos.2021.03379 |
