Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

Sharifi S., Kalayci T., Palanduz S., Ozturk S., Cefle K.

BALKAN MEDICAL JOURNAL, cilt.38, sa.6, ss.365-373, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5152/balkanmedj.2021.21006
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, Central & Eastern European Academic Source (CEEAS), CINAHL, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.365-373
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that results in a predisposition to the growth of multiple tumors in the central nervous system, the peripheral nervous system, and the skin. The clinical manifestations of neurofibromatosis are associated with loss of neurofibromin expression which causes the upregulation of the RAS pathway. Although neurofibromatosis type 1 can be diagnosed based on the National Institutes of Health criteria, sometimes the diagnosis is difficult, in cases where the characteristic features do not develop. Moreover, other RAS-related disorders may present with significantly overlapping clinical features.