{"title":"Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.","authors":"Ahmet Evlice, Atıl Bişgin, Filiz Koç","doi":"10.18071/isz.76.0270","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and purpose: </strong><p>Neuro­fibromatosis type 1 (NF1) is a rare, auto­somal dominant multisystemic disease. The NF1 gene is localized on chromosome 17q11.2. Patients with NF1 have different clinical presentations and comorbidities. The aim of the present study is to determine the novel mutations and neurological comorbidities of NF1.</p>.</p><p><strong>Methods: </strong><p>Patients who were diagnosed with NF1 by clinical criteria of the National Institutes of Health were included in the study. After a detailed examination, the NF1 gene was analysed with the help of next generation sequencing technology from pe­ripheral blood samples via MiSeq (Illu­mina, USA). Bioinformatic analyzes were per­for­med to evaluate the clinical sig­ni­fi­cance of the detected variants via the in­ternational databanks in accordance with the ACMG (American College of Medical Ge­netics) guide­line. In addition, cerebral-spinal MRI, cerebral angiography, and ENMG exa­mi­na­tions were performed if deemed necessary.</p>.</p><p><strong>Results: </strong><p>Twenty patients (12 female, 8 male) were included in the study. The mean age was 25.8±10 (10-56) years. Previously defined 13 different pathogenic mutations according to the ACMG criteria were identified in 18 patients. Also, two novel mutations were detected in 2 cases. Moreover, neurological comorbidities (moyamoya disease, multiple sclerosis, Charcot Marie Tooth Type 1A) were found in 3 patients with NF1.</p>.</p><p><strong>Conclusion: </strong><p>In the present study two novel mutations and three different neurological comorbidities were identified in NF1.</p>.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ideggyogyaszati Szemle-Clinical Neuroscience","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.18071/isz.76.0270","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background and purpose:
Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant multisystemic disease. The NF1 gene is localized on chromosome 17q11.2. Patients with NF1 have different clinical presentations and comorbidities. The aim of the present study is to determine the novel mutations and neurological comorbidities of NF1.
.
Methods:
Patients who were diagnosed with NF1 by clinical criteria of the National Institutes of Health were included in the study. After a detailed examination, the NF1 gene was analysed with the help of next generation sequencing technology from peripheral blood samples via MiSeq (Illumina, USA). Bioinformatic analyzes were performed to evaluate the clinical significance of the detected variants via the international databanks in accordance with the ACMG (American College of Medical Genetics) guideline. In addition, cerebral-spinal MRI, cerebral angiography, and ENMG examinations were performed if deemed necessary.
.
Results:
Twenty patients (12 female, 8 male) were included in the study. The mean age was 25.8±10 (10-56) years. Previously defined 13 different pathogenic mutations according to the ACMG criteria were identified in 18 patients. Also, two novel mutations were detected in 2 cases. Moreover, neurological comorbidities (moyamoya disease, multiple sclerosis, Charcot Marie Tooth Type 1A) were found in 3 patients with NF1.
.
Conclusion:
In the present study two novel mutations and three different neurological comorbidities were identified in NF1.
期刊介绍:
The aim of Clinical Neuroscience (Ideggyógyászati Szemle) is to provide a forum for the exchange of clinical and scientific information for a multidisciplinary community. The Clinical Neuroscience will be of primary interest to neurologists, neurosurgeons, psychiatrist and clinical specialized psycholigists, neuroradiologists and clinical neurophysiologists, but original works in basic or computer science, epidemiology, pharmacology, etc., relating to the clinical practice with involvement of the central nervous system are also welcome.