Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/796
Title: Clinical findings and mutation analysis of NF1 patients in Turkey
Authors: Terzi, Yunus Kasım
Balcı, Sibel Oğuzkan
Anlar, Banu
Varan, Ali
Evans, Sibel Ersoy
Sharafi, Parisa
Ayter, Şükriye
Keywords: Neurofibromatosis type 1
Mutations
Genotype-phenotype relation
Turkey
Plexiform neurofibroma
Neurofibromatosis 1
Neurofibromin 1
Issue Date: Feb-2018
Publisher: Elsevier B.V.
Source: Terzi, Y. K., Oğuzkan-Balcı, S., Anlar, B., Varan, A., Ersoy-Evans, S., Sharafi, P., & Ayter, Ş. (2018). Clinical findings and mutation analysis of NF1 patients in Turkey. Meta Gene, 15, 80-83.
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals are sporadic cases and carry de novo mutations Therefore mutation analysis of NF1 may be an important tool in early diagnosis and genetic counseling. This is the first large NF1 study performed in Turkey. The data collected in this study enabled us to overview the genetic and clinical aspects of NF1 molecular diagnostics. The patients, who were clinically diagnosed for NF1, were included in this study. These patients were clinically evaluated, and subgroup of them genotyped or DNA sequenced for mutations in NF1, either to confirm the clinical diagnosis or to identify pathogenic mutations. The mutation detection rate was 52%, based on analysis of only genomic DNA. We observed that frameshift mutations were the largest proportion of the identified mutations (38.5%). The frequency of microdeletions was 26.9% and the splice site and nonsense mutations were 11.5% in this cohort. Turkish NF1 patients have similar NF1 germline mutations compared to other populations. Considering that some of these detected mutations belonged to the patients who did not fulfill the NIH criteria for NF1 diagnosis, mutation analysis of NF1 is an important tool in early diagnosis and genetic counseling.
URI: https://linkinghub.elsevier.com/retrieve/pii/S2214540017300956
https://hdl.handle.net/20.500.11851/796
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

Show full item record

CORE Recommender

SCOPUSTM   
Citations

2
checked on Sep 23, 2022

WEB OF SCIENCETM
Citations

2
checked on Sep 24, 2022

Page view(s)

32
checked on Feb 6, 2023

Google ScholarTM

Check

Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.