The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridTemel, Sehime G/0000-0002-9802-0880
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGurkan, Hakan
dc.contributor.authorDogan, Ipek Gungor
dc.contributor.authorDemir, Selma
dc.contributor.authorSag, Sebnem Ozemri
dc.contributor.authorKabayegit, Zehra Manav
dc.contributor.authorAtli, Emine Ikbal
dc.date.accessioned2024-06-12T10:56:09Z
dc.date.available2024-06-12T10:56:09Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractAIM: To investigate the genetic etiology of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN). MATERIAL and METHODS: We herein examined 55 non-related patients with a suspicion of CMT phenotype or HMSN using a customized multigene panel based on the next-generation sequencing technique. All cases were previously analyzed for PMP22 duplication with the Multiplex Ligand Probe Amplification (MLPA) method. RESULTS: In 13 cases (7.15%), we identified a pathogenic/likely pathogenic variant. The affected genes were MARS1, NDRG1, GJB1, GDAP1, MFN2, PRX, SH3TC2, and FGD4. In six cases (10.9%), novel variants were identified: pathogenic variants in GJB1 and FGD4 genes, variants of unknown significance (VUS) in HSPB3, CHRNA1, ARHGEF10, and KIF5A genes. In 21 cases (11.55%), VUS with the genes HSPB3, KIF1B, SCN11A, CHRNA1, HSPB1, FIG4, ARHGEF10, DHTKD1, SBF1, EGR2, SBF2, IGHMBP2, KIF5A, and DNAJB2 were identified. CONCLUSION: In this study, we had a 7.15% diagnosis rate with the NGS (Next Generation Sequencing) method in the CMT disease. Targeted next-generation sequencing panels are beneficial, time-saving, and cost-effective in the diagnosis of CMT.en_US
dc.identifier.doi10.5137/1019-5149.JTN.33661-21.3
dc.identifier.endpage895en_US
dc.identifier.issn1019-5149
dc.identifier.issue6en_US
dc.identifier.pmid34169998en_US
dc.identifier.scopus2-s2.0-85120057159en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage888en_US
dc.identifier.urihttps://doi.org/10.5137/1019-5149.JTN.33661-21.3
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19688
dc.identifier.volume31en_US
dc.identifier.wosWOS:000726794300009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Neurosurgical Socen_US
dc.relation.ispartofTurkish Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCharcot-Marie-Toothen_US
dc.subjectNext Generation Sequencingen_US
dc.subjectMultigene Testingen_US
dc.subjectHereditary Neuropathyen_US
dc.subjectDistal Symmetric Polyneuropathyen_US
dc.subjectNeuropathiesen_US
dc.subjectAssociationen_US
dc.subjectMpzen_US
dc.titleThe Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Diseaseen_US
dc.typeArticleen_US

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