Rare Genetic Variants in CMT: Linking Genotype to Phenotype Through Morphological and Molecular Studies (P6-9.015)

Can Ebru Bekircan-Kurt; Evrim Aksu‐Menges; Isra Sinik; Doruk Arslan; Eray Taha Kumtepe; Yunus Kasim Terzi; Zeynep Ergul-Ulger; Sevim Erdem-Ozdamar; Ersin Tan; Burcu Balci-Hayta

doi:10.1212/wnl.0000000000215088

June 9, 2026Neurology

Rare Genetic Variants in CMT: Linking Genotype to Phenotype Through Morphological and Molecular Studies (P6-9.015)

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Key Points

The study aims to discover novel or rare genetic variants in CMT patients excluded from common gene assessments and evaluate their pathogenicity.
Identified genetic variants in CMT patients with excluded common genes.
Conducted morphological, molecular, and in-silico analyses to assess pathogenicity.
Novel genetic variants were identified in CMT patients, with some demonstrating pathogenic potential.
Morphological and molecular analyses supported the linkage between genotype and phenotype.

Implication

Identifies novel genetic variants in Charcot-Marie-Tooth patients, linking them to disease features.

Abstract

The aim of this study was to identify novel or rare genetic variants in Charcot–Marie–Tooth (CMT) patients in whom common CMT genes had previously been excluded, and to assess their pathogenicity through morphological, molecular, and in-silico analyses.

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Cite This Study

Bekircan-Kurt et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf36efaef96ed7f055f2b https://doi.org/10.1212/wnl.0000000000215088

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Rare Genetic Variants in CMT: Linking Genotype to Phenotype Through Morphological and Molecular Studies (P6-9.015)

Key Points

Implication

Abstract

Discussion

Cite This Study

Rare Genetic Variants in CMT: Linking Genotype to Phenotype Through Morphological and Molecular Studies (P6-9.015)

Key Points

Implication

Abstract

Discussion

Cite This Study

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