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, vol.38, no.6, pp.365-373, 2021 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.5152/balkanmedj.2021.21006
  • Journal Name: BALKAN MEDICAL JOURNAL
  • Journal Indexes: 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)
  • Page Numbers: pp.365-373
  • Istanbul University Affiliated: Yes

Abstract

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.