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Open Access 01-12-2016 | Case report

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

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

Published in: Journal of Medical Case Reports | Issue 1/2016

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.

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Title: Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
Authors: Francesca Cortini
Barbara Marinelli
Manuela Seia
Barbara De Giorgio
Angela Cecilia Pesatori
Nicola Montano
Alessandra Bassotti
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2016
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-016-1087-0

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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