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Article

De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.

Genes & genomics - 1 Jul 2025

Lee Ah Jin, Kanwal Sumaira, Awasthi Manisha, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

BACKGROUND: Somatic mosaicism is caused by a postzygotic de novo mutation. It is a very rare genetic event, and mosaic cases have been reported only very limitedly among Korean patients with peripheral neuropathies, including Charcot-Marie-Tooth disease (CMT) so far. OBJECTIVE: This study was performed to identify and characterize somatic mosaicism in Korean families with CMT. METHODS: Genetic causes were...

Read the complete abstract on PubMed

Topics

Humans
Charcot-Marie-Tooth Disease
Mosaicism
Male
Female
TRPV Cation Channels
Adult

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

Pedigree

Mutation

Exome Sequencing

GTP-Binding Protein gamma Subunits

Middle Aged

Phenotype

Source

Identifiers

PMID: 40257654
DOI: 10.1007/s13258-025-01643-w

Genes

INF2
TRPV4

Variants

Provenance

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