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Related Experiment Video

Updated: Aug 19, 2025

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A likely HOXC4 predisposition variant for Chiari malformations.

Douglas L Brockmeyer1,2, Samuel H Cheshier1,2,3, Jeff Stevens4

  • 11Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Utah, Salt Lake City, Utah.

Journal of Neurosurgery
|November 26, 2022
PubMed
Summary

Researchers identified 38 rare variants potentially causing Chiari malformation (CM) in high-risk families. A HOXC4 gene variant was found in two pedigrees, suggesting a link to CM with craniocervical kyphosis.

Keywords:
Chiari malformationUtah Population Databasecraniocervical kyphosishigh-risk pedigreepredispositionprotein prediction modeling

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Area of Science:

  • Genetics
  • Neurology
  • Medical Research

Background:

  • Inherited factors for Chiari malformation (CM) are suspected but difficult to confirm.
  • High-risk pedigrees offer a unique resource for identifying CM predisposition genes.

Purpose of the Study:

  • To identify rare genetic variants predisposing to Chiari malformation (CM) using a high-risk pedigree approach.
  • To predict the pathogenicity of identified variants using protein structure modeling.

Main Methods:

  • Utilized the Utah Population Database to identify high-risk pedigrees with increased CM diagnoses.
  • Analyzed whole-exome sequencing data from 32 CM patients in 24 high-risk pedigrees.
  • Employed protein structure prediction (I-TASSER) to assess variant impact.

Main Results:

  • Identified 38 rare candidate variants shared among CM-affected individuals in high-risk pedigrees.
  • Discovered a HOXC4 gene variant in two independent pedigrees, associated with a specific craniocervical bony phenotype.
  • Protein structure predictions indicated the HOXC4 mutation may impair DNA binding.

Conclusions:

  • Analysis of unique genetic resources yielded 38 strong candidate CM predisposition variants.
  • The identified HOXC4 variant warrants further investigation for its role in CM with craniocervical kyphosis.
  • These candidate variants require validation in independent populations.