Frame Shift Mutation in MPV17 Gene Leading to Charcot Marie Tooth Disease type2EE with Novel Neurological Phenotype: Case Report (P9-8.005)

Amara Kabir; Fawad Saleem; tashefa Sajjad

doi:10.1212/wnl.0000000000216825

June 9, 2026Neurology

Frame Shift Mutation in MPV17 Gene Leading to Charcot Marie Tooth Disease type2EE with Novel Neurological Phenotype: Case Report (P9-8.005)

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Key Points

To describe a novel case of Charcot Marie Tooth disease type 2EE linked to a mutation in the MPV17 gene.
Case report of a pediatric patient with neurological symptoms
Identification of MPV17 gene c.284dup mutation performed through genetic testing
Patient presented with demyelinating polyneuropathy and leukodystrophy, symptoms linked to MPV17 mutation
Novel variant c.284dup (p.Phe96LeufsTer17) identified, contributing to unique disease phenotype

Implication

Case report reveals novel neurological phenotype associated with MPV17 gene mutation in a child, suggesting unique manifestations.

Abstract

We present a case report of a pediatric patient with demyelinating polyneuropathy and leukodystrophy in MPV17 gene mutation. The leukodystrophy and c.284dup (p.Phe96LeufsTer17) variant are novel findings in our patient with Charcot Marie Tooth disease type2EE.

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Cite This Study

Kabir et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf300faef96ed7f0558af https://doi.org/10.1212/wnl.0000000000216825

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Frame Shift Mutation in MPV17 Gene Leading to Charcot Marie Tooth Disease type2EE with Novel Neurological Phenotype: Case Report (P9-8.005)

Key Points

Implication

Abstract

Discussion

Cite This Study

Frame Shift Mutation in MPV17 Gene Leading to Charcot Marie Tooth Disease type2EE with Novel Neurological Phenotype: Case Report (P9-8.005)

Key Points

Implication

Abstract

Discussion

Cite This Study

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