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Two novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.

Cellular signalling - 1 Jun 2025

Li Ping, Wu Ya, Deng Zhanjin, Samad Abdus, Xi Yuqian, Song Jiawen, Zhang Yanping, Li Jianwei, Zhou Yong-An, Xiong Qiuhong, Wu Changxin

Abstract excerpt

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive form of demyelinating neuropathy caused by the biallelic pathogenic mutations in the SH3TC2 gene and characterized by progressive scoliosis, muscular atrophy, distal weakness, and reduced nerve conduction velocity. Here, we report two novel SH3TC2 mutations (c.452dupT and c.731 + 1G > T) from a proband with typical clinical manifestations of...

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Topics

Humans
Charcot-Marie-Tooth Disease
Genetic Predisposition to Disease
HEK293 Cells
Mutation
Vesicular Transport Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Intracellular Signaling Peptides and Proteins

Source

Identifiers

PMID: 39961410
DOI: 10.1016/j.cellsig.2025.111669

Genes

TFRC

Variants

Provenance

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