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A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

Francesca Cortini1,2, Barbara Marinelli1, Silvia Romi1,2

  • 11 Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Milano, Italy.

Vascular and Endovascular Surgery
|February 11, 2017
PubMed

Insights

Vascular Ehlers-Danlos syndrome (vEDS) is a severe genetic disorder. A specific COL3A1 gene mutation was identified, confirming incomplete penetrance of vEDS-causing mutations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Vascular Ehlers-Danlos syndrome (vEDS) is a rare, severe connective tissue disorder.
  • It is primarily caused by mutations in the collagen type III alpha 1 chain (COL3A1) gene.

Keywords:
COL3A1 geneEhlers-Danlos syndrome vascular typeHaloplex target enrichmentbioinformatics analysisnext-generation sequencingpenetrance

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