Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

doi:10.1016/j.ajhg.2014.10.002

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Article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

American journal of human genetics - 6 Nov 2014

Cottenie Ellen, Kochanski Andrzej, Jordanova Albena, Bansagi Boglarka, Zimon Magdalena, Horga Alejandro, Jaunmuktane Zane, Saveri Paola, Rasic Vedrana Milic, Baets Jonathan, Bartsakoulia Marina, Ploski Rafal, Teterycz Pawel, Nikolic Milos, Quinlivan Ros, Laura Matilde, Sweeney Mary G, Taroni Franco, Lunn Michael P, Moroni Isabella, Gonzalez Michael, Hanna Michael G, Bettencourt Conceicao, Chabrol Elodie, Franke Andre, von Au Katja, Schilhabel Markus, Kabzińska Dagmara, Hausmanowa-Petrusewicz Irena, Brandner Sebastian, Lim Siew Choo, Song Haiwei, Choi Byung-Ok, Horvath Rita, Chung Ki-Wha, Zuchner Stephan, Pareyson Davide, Harms Matthew, Reilly Mary M, Houlden Henry

Abstract excerpt

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations....

Topics

Adult
Base Sequence
Charcot-Marie-Tooth Disease
Chromosome Mapping
Exome
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplotypes

Humans

Models, Molecular

Molecular Sequence Data

Mutation, Missense

Pedigree

Phenotype

Protein Interaction Mapping

Sequence Analysis, DNA

Sural Nerve

Source

Open in PubMed Open full text

Identifiers

PMID: 25439726
DOI: 10.1016/j.ajhg.2014.10.002
PMCID: PMC4225647

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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