Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report

J Med Case Rep. 2016 Oct 31;10(1):303. doi: 10.1186/s13256-016-1087-0.

Abstract

Background: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments.

Case presentation: We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome. Genetic testing, conducted by Target Enrichment approach (Agilent Technologies), identified a new mutation c.1493G>A, p.G498D in exon 21 of COL3A1 gene (heterozygous state). This mutation disrupts the normal glycine-X-Y repetitions of type III procollagen by converting glycine to aspartic acid.

Conclusions: We report a new genetic mutation associated with the vascular type of Ehlers-Danlos syndrome. We also describe clinical and genetic findings that are important to understand the genotype/phenotype correlation in patients with the vascular type of Ehlers-Danlos syndrome.

Keywords: COL3A1 gene; Ehlers–Danlos syndrome vascular type; HaloPlex Target Enrichment; Next-generation sequencing; Sanger sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Collagen Type III / genetics*
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Intestinal Diseases / complications*
  • Intestinal Diseases / genetics
  • Italy
  • Mutation / genetics*

Substances

  • COL3A1 protein, human
  • Collagen Type III