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Actin Polymerization and Cell Motility01:13

Actin Polymerization and Cell Motility

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Related Experiment Video

Updated: Jul 17, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Lauren Kerr1,2, Pierre Moffatt1,3, Lauren Hyer4

  • 1Shriners Hospital for Children, Montreal, Canada.

Clinical Genetics
|July 16, 2026
PubMed
Summary

Novel ACTC1 gene variants are linked to arthrogryposis multiplex congenita (AMC), a congenital disorder affecting joint mobility. This study identifies new genetic causes and expands the known symptoms associated with ACTC1-related AMC.

Keywords:
arthrogryposis multiplex congenitacardiac alpha‐actinimmunofluorescencewestern blot

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Arthrogryposis multiplex congenita (AMC) involves congenital joint contractures.
  • ACTC1 gene variants are known to cause heart disorders and have been implicated in AMC.
  • The phenotypic spectrum of ACTC1-related AMC requires further characterization.

Purpose of the Study:

  • To identify and characterize novel ACTC1 variants associated with AMC.
  • To investigate the functional impact of identified ACTC1 variants.
  • To expand the understanding of clinical phenotypes in ACTC1-related AMC.

Main Methods:

  • Genetic sequencing to identify ACTC1 variants in individuals with AMC.
  • Clinical evaluation of affected individuals, including detailed phenotyping.
  • In vitro functional assays to assess the impact of variants on protein function (actin filament assembly, protein levels).

Main Results:

  • Two novel heterozygous ACTC1 missense variants (p.Glu109Lys and p.Lys217Thr) were identified in individuals with AMC.
  • Individual 1 presented with scoliosis; Individual 2 exhibited Shone's complex with coarctation of the aorta, a previously unreported phenotype for ACTC1-related AMC.
  • In vitro studies showed p.Glu109Lys impaired actin filament assembly and reduced ACTC1 protein levels, while p.Lys217Thr did not show these effects.

Conclusions:

  • The identified ACTC1 variants are novel causes of AMC.
  • The study expands the phenotypic spectrum of ACTC1-related AMC, including complex cardiac anomalies.
  • Functional data provides insights into the molecular mechanisms underlying ACTC1-related AMC.