title: Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
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.
  
  
  METHODS
  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.
authors: Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Via San Barnaba 8, 20122, Milano, Italy. francesca.cortini@guest.unimi.it.|Genetics Laboratory, IRCCS Ca' Granda Foundation, via Francesco Sforza 35, Milan, Italy. francesca.cortini@guest.unimi.it.
authors: Francesca
authors: http://orcid.org/0000-0002-5417-4546
authors: F
authors: Cortini
authors: Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Via San Barnaba 8, 20122, Milano, Italy.
authors: Barbara
authors: B
authors: Marinelli
authors: Genetics Laboratory, IRCCS Ca' Granda Foundation, via Francesco Sforza 35, Milan, Italy.
authors: Manuela
authors: M
authors: Seia
authors: Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Via San Barnaba 8, 20122, Milano, Italy.
authors: Barbara
authors: B
authors: De Giorgio
authors: Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Via San Barnaba 8, 20122, Milano, Italy.
authors: Angela Cecilia
authors: AC
authors: Pesatori
authors: Department of Internal Medicine, Fondazione IRCCS Ca` Granda - Ospedale Maggiore & Department of Clinical Sciences and Health Community, University of Milan, Italy.
authors: Nicola
authors: N
authors: Montano
authors: Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, via San Barnaba 8, Milan, Italy.
authors: Alessandra
authors: A
authors: Bassotti
mesh_terms: D000328:Adult; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007410:Intestinal Diseases / Q000150:complications* / Q000235:genetics; D007558:Italy; D009154:Mutation / Q000235:genetics*
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III
keywords: COL3A1 gene; Ehlers–Danlos syndrome vascular type; HaloPlex Target Enrichment; Next-generation sequencing; Sanger sequencing