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

Francesca Cortini, Barbara Marinelli, Manuela Seia, Barbara De Giorgio, Angela Cecilia Pesatori, Nicola Montano, Alessandra Bassotti

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalJournal of Medical Case Reports
Volume10
Issue number1
DOIs
Publication statusPublished - Oct 31 2016

Keywords

  • COL3A1 gene
  • Ehlers-Danlos syndrome vascular type
  • HaloPlex Target Enrichment
  • Next-generation sequencing
  • Sanger sequencing

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report'. Together they form a unique fingerprint.

  • Cite this