Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

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dc.authoridAhmet Sami Güven: 0000-0002-6085-1582en_US
dc.contributor.authorKiraz, Aslıhan
dc.contributor.authorGümüş, Hakan
dc.contributor.authorBalta, Burhan
dc.contributor.authorErdoğan, Murat
dc.contributor.authorGüven, Ahmet Sami
dc.contributor.authorSavranlar, Ahmet
dc.contributor.authorÇelik, Serkan Fazlı
dc.contributor.authorKumandaş, Sefer
dc.contributor.authorKaraman, Zehra Filiz
dc.contributor.authorÖzdemir, Sevda Yeşim
dc.contributor.authorÖzgül Gümüş, Ümmü Gülsüm
dc.contributor.authorBayram, Nurettin
dc.contributor.authorPer, Hüseyin
dc.date.accessioned2023-05-04T12:16:20Z
dc.date.available2023-05-04T12:16:20Z
dc.date.issued2023en_US
dc.departmentNEÜ, Meram Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Anabilim Dalıen_US
dc.departmentNEÜ, Meram Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalıen_US
dc.descriptionWOS:000925992500001en_US
dc.description.abstractObjective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes.en_US
dc.identifier.citationKiraz, A., Gümüş, H., Balta, B., Erdoğan, M., Güven, A. S., Savranlar, A., Çelik, S. F., Kumandaş, S., Karaman, Z. F., Özdemir, S. Y., Özgül Gümüş, Ü. G., Bayram, N., Per, H. (2023). Detection of novel NF1 variants with next-generation DNA sequencing technology and genotype-phenotype characteristics of neurofibromatosis. Erciyes Medical Journal, 45, 2, 152-158.en_US
dc.identifier.doi10.14744/etd.2022.90023en_US
dc.identifier.endpage158en_US
dc.identifier.issn2149-2247en_US
dc.identifier.issn2149-2549en_US
dc.identifier.issue2en_US
dc.identifier.startpage152en_US
dc.identifier.urihttp://dx.doi.org/10.14744/etd.2022.90023
dc.identifier.urihttps://hdl.handle.net/20.500.12452/9592
dc.identifier.volume45en_US
dc.identifier.wosWOS:000925992500001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherErciyes University School of Medicineen_US
dc.relation.ispartofErciyes Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNF1en_US
dc.subjectNGSen_US
dc.subjectNovel Variantsen_US
dc.subjectSequencingen_US
dc.subjectTürkiyeen_US
dc.titleDetection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosisen_US
dc.typeArticleen_US

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