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Article

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

Neurology - 11 Mar 2014

Klein Christopher J, Wu Yanhong, Vogel Peter, Goebel Hans H, Bönnemann Carsten, Zukosky Kristen, Botuyan Maria-Victoria, Duan Xiaohui, Middha Sumit, Atkinson Elizabeth J, Mer Georges, Dyck Peter J

Abstract excerpt

OBJECTIVE: To identify the genetic cause of axonal hereditary motor and sensory neuropathy (HMSN2) with infrequent giant axons. METHODS: We studied 11 members of a previously described HMSN2 family with infrequent giant axons and variable cardiomyopathy. Whole-exome sequencing (WES) was performed on 2 affected persons and 1 unaffected person. Sanger sequencing was utilized to confirm the identified novel variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24500646
DOI: 10.1212/WNL.0000000000000206
PMCID: PMC3959756

Genes

DCAF8
DDB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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