دورية أكاديمية
Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey
| العنوان: | Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey |
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| المؤلفون: | Ersoy-Evans, Sibel, Sharafi, Parisa, Ayter, Şükriye, Varan, Ali |
| بيانات النشر: | Springer |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Optic pathway gliomas, Neurofibromatosis type 1, Clinical symptoms of OPG, Genetic mutation analysis, Nf1 Gene, Mutation Analysis, Deletions, Genotype |
| الوصف: | Article; Early Access ; PurposeOpticpathway gliomas (OPGs) occur in 15% of patients with neurofibromatosis type 1 (NF1). Their location renders biopsy or surgical resection difficult because of the risk of vision loss. Therefore, only a few NF1-OPGs have been used for tissue diagnosis, and only a few analyses have been published on the molecular changes that drive tumorigenesis.MethodsDue to this reason, we evaluated 305 NF1 patients, 34 with OPG and 271 without OPG for germ line mutations. All subjects underwent clinical examination and DNA analysis of NF1, confirming the diagnosis of NF1.ResultsClinically, the group with OPG had a significantly higher incidence of bone dysplasia (P 0.001) and more cafe-au-lait spots (P = 0.001) compared to those in the group without OPG. The frequency of Lisch nodules was on the borderline of statistical significance (P = 0.058), whereas the frequency of neurofibromas did not differ significantly (cutaneous, P = 0.64; plexiform, P = 0.44). Individuals with OPG mostly had mutations in the first one-third of the NF1 gene compared with that in patients who did not have OPG. Some identical mutations were detected in unrelated families with NF1-OPG.ConclusionThe observation of certain phenotypic features and the correlation between genotype and phenotype might help to determine the risk of developing OPG with NF1. ; Hacettepe University Scientific Research and Development Office [H.U.BAB. 010 T02 102] ; This study was supported by the Hacettepe University Scientific Research and Development Office (project numbers: H.U.BAB. 010 T02 102). |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0256-7040 1433-0350 |
| العلاقة: | Childs Nervous System; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1007/s00381-023-06061-5Test; https://hdl.handle.net/20.500.11851/10710Test; WOS:001023659600002; 2-s2.0-85163830064; Q2 |
| DOI: | 10.1007/s00381-023-06061-5 |
| الإتاحة: | https://doi.org/20.500.11851/1071010.1007/s00381-023-06061-5Test https://hdl.handle.net/20.500.11851/10710Test |
| حقوق: | none |
| رقم الانضمام: | edsbas.9D9512A3 |
| قاعدة البيانات: | BASE |
| تدمد: | 02567040 14330350 |
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| DOI: | 10.1007/s00381-023-06061-5 |