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

Vasc Endovascular Surg. 2017 Apr;51(3):141-145. doi: 10.1177/1538574417692114. Epub 2017 Feb 9.

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

Keywords: COL3A1 gene; Ehlers-Danlos syndrome vascular type; Haloplex target enrichment; bioinformatics analysis; next-generation sequencing; penetrance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Collagen Type III / genetics*
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / therapy
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mutation*
  • Pedigree
  • Penetrance
  • Phenotype

Substances

  • COL3A1 protein, human
  • Collagen Type III