GENETIC ANALYSES OF THE NF1 GENE IN TURKISH NEUROFIBROMATOSIS TYPE I PATIENTS AND DEFINITION OF THREE NOVEL VARIANTS

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authoridEKER, DAMLA/0000-0001-7563-118X
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidKaral, Yasemin/A-6622-2018
dc.authorwosidÇiftdemir, Mert/AAH-9210-2020
dc.authorwosidOzal, Sadık Altan/B-5123-2019
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosideker, damla/AAE-6947-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.contributor.authorUlusal, S. D.
dc.contributor.authorGurkan, H.
dc.contributor.authorAtli, E.
dc.contributor.authorOzal, S. A.
dc.contributor.authorCiftdemir, M.
dc.contributor.authorTozkir, H.
dc.contributor.authorKaral, Y.
dc.date.accessioned2024-06-12T11:02:33Z
dc.date.available2024-06-12T11:02:33Z
dc.date.issued2017
dc.departmentTrakya Üniversitesien_US
dc.description.abstractNeurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.en_US
dc.identifier.doi10.1515/bjmg-2017-0008
dc.identifier.endpage19en_US
dc.identifier.issn1311-0160
dc.identifier.issue1en_US
dc.identifier.pmid28924536en_US
dc.identifier.scopus2-s2.0-85029611213en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage13en_US
dc.identifier.urihttps://doi.org/10.1515/bjmg-2017-0008
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21332
dc.identifier.volume20en_US
dc.identifier.wosWOS:000410373900002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofBalkan Journal Of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGenetic Diagnosisen_US
dc.subjectNeurofibromatosis Type I (NF1)en_US
dc.subjectNext Generation Sequencing (NGS)en_US
dc.subjectMultiplex Ligation-Dependent Probe Amplification (MLPA)en_US
dc.subjectMolecular Diagnosisen_US
dc.subjectRecurrent Mutationsen_US
dc.subjectSequenceen_US
dc.subjectPseudoarthrosisen_US
dc.subjectPhenotypeen_US
dc.subjectGenotypeen_US
dc.subjectGenomicsen_US
dc.subjectDeletionen_US
dc.subjectCanceren_US
dc.subjectDomainen_US
dc.titleGENETIC ANALYSES OF THE NF1 GENE IN TURKISH NEUROFIBROMATOSIS TYPE I PATIENTS AND DEFINITION OF THREE NOVEL VARIANTSen_US
dc.typeArticleen_US

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