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Dergiler / The Journal of Pediatric Research / 2021 / Cilt: 8 - Sayı: 3

The Spectrum of NF1 Gene Variations in Southeastern Turkey

Emre KIRAT
Hatice Mutlu ALBAYRAK
Sayfa
286–296
DOI
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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.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Aim: We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey.
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Temel Bulgular & Veri:Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

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.

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Bu Makaleye Atıf Yap

KIRAT, E., ALBAYRAK, H. M. (2021). The Spectrum of NF1 Gene Variations in Southeastern Turkey. The Journal of Pediatric Research, Cilt: 8 - Sayı: 3, 286–296. https://ajindex.com/articles/362703

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Kaynakça (13)

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