Nörofibromatozis Tip1’li Olgularda NF1 Geni Varyant Spektrumu: Tek Merkez Deneyimi

Year 2023, Volume: 10 Issue: 1, 21 - 25, 31.03.2023

Hamıde Betul Gerik Celebi , Hilmi Bolat , İpek Dokurel , Meliha Demiral , Sırrı Çam

https://doi.org/10.34087/cbusbed.1161315

Abstract

Giriş ve Amaç: Nörofibromatozis tip 1 başlıca cafe au lait lekeleri, Lisch nodülleri ve nörofibromlarla karakterize otozomal dominant kalıtımlı bir rasopatidir. Bu çalışmada amacımız, NF1 ön tanısıyla başvuran hastaların genotipik verilerini sunmaktır.
Gereç ve Yöntemler: 2018 Haziran–2022 Haziran tarihleri arasında yaş ortalaması 8,1 yaş (2 ay-28 yaş aralığında) olan 22 olgu NF1 ön tanısıyla değerlendirildi. Hastalara NF1 geni dizi analizi yapıldı.
Bulgular: NF1 geni dizi analizi yöntemiyle tanı oranı %90,9 idi. 16 farklı NF1 geni varyantından 13 (%81,25) 'ü patojenik/muhtemel patojenik iken, 3 (%18,75)'ü ise klinik önemi bilinmeyen varyantlardı.
Sonuç: NF1 ön tanısıyla başvuran hastalardaki genetik tanı oranı ve klinik bulguları literatür verileri eşliğinde tartışıldı. 4 yeni NF1 geni varyantı saptandı.

Keywords

Nörofibromatozis tip 1, Yeni nesil DNA dizileme, NF1 geni, yeni varyantlar

NF1 Gene Variant Spectrum with Neurofibromatosis Type 1 Patients: Single Center Experience

Abstract

Objective: Neurofibromatosis type 1 is an autosomal dominant inherited rasopathy mainly characterized by cafe au lait macules, Lisch nodules and neurofibromas. In this study, our aim is to present the genotypic data of patients evaluated with a pre-diagnosis of NF1.
Materials and Methods: Between June 2018 and June 2022, 22 cases with a mean age of 8.1 years (range 2 months to 28 years) were evaluated with a pre-diagnosis of NF1. NF1 gene sequence analysis was performed on the patients.
Results: The diagnosis rate was 90.9% by NF1 gene sequence analysis. Out of a total of 16 NF1 gene variations, 13 (81,25%) were pathogenic/likely pathogenic, while 3 (18,75%) were variants of uncertaine significance.
Conclusion: The rate of genetic diagnosis and clinical findings in patients presenting with a pre-diagnosis of NF1 were discussed in the light of literature data. 4 novel NF1 gene variants were identified.

Keywords

Neurofibromatosis type 1, Next generation DNA sequencing, NF1 gene, novel variants

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