A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

Am J Med Genet A. 2022 Jul;188(7):2192-2197. doi: 10.1002/ajmg.a.62745. Epub 2022 Apr 9.

Abstract

The Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers-Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in COL5A1 and COL5A2 cause the classical EDS subtypes. Pathogenic variants in COL3A1 cause vascular EDS. In this case report, we describe a patient with a phenotype resembling that of vascular EDS, caused by a novel pathogenic variant in COL5A1.

Keywords: COL5A1; classical EDS; gene-panel; hereditary disorder of connective tissue; iliac artery dissection; vascular phenotype.

Publication types

  • Case Reports

MeSH terms

  • Collagen / genetics
  • Collagen Type V / genetics
  • Ehlers-Danlos Syndrome* / diagnosis
  • Ehlers-Danlos Syndrome* / genetics
  • Ehlers-Danlos Syndrome* / pathology
  • Humans
  • Mutation
  • Phenotype
  • Skin Abnormalities* / genetics

Substances

  • COL5A1 protein, human
  • Collagen Type V
  • Collagen