1. The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
- Author
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Yalcintepe S, Gurkan H, Dogan IG, Demir S, Sag SO, Kabayegit ZM, Atli EI, Atli E, Eker D, and Temel SG
- Subjects
- DNA-Binding Proteins, Diagnosis, Differential, Flavoproteins, HSP40 Heat-Shock Proteins, Heat-Shock Proteins, High-Throughput Nucleotide Sequencing, Humans, Intracellular Signaling Peptides and Proteins, Ketoglutarate Dehydrogenase Complex, Kinesins, Microfilament Proteins, Molecular Chaperones, Phosphoric Monoester Hydrolases, Transcription Factors, Charcot-Marie-Tooth Disease diagnosis, Charcot-Marie-Tooth Disease genetics
- Abstract
Aim: 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.
- Published
- 2021
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