Publication: The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease
Date
2021-01-01
Authors
Yalçıntepe, Sinem
Gürkan, Hakan
Doğan, İpek Güngör
Demir, Selma
Sağ, Şebnem Özemri
Kabayeğit, Zehra Manav
Atlı, Emine İkbal
Atlı, Engin
Eker, Damla
Temel, Şehime Gülsün
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Publisher
Turkish Neurosurgical
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.
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Keywords
Distal symmetric polyneuropathy, Neuropathies, Association, Mpz, Charcot-marie-tooth, Next generation sequencing, Multigene testing, Hereditary neuropathy, Neurosciences & neurology, Surgery
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