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Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088665/ https://www.ncbi.nlm.nih.gov/pubmed/27799058 http://dx.doi.org/10.1186/s13256-016-1087-0 |
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author | Cortini, Francesca Marinelli, Barbara Seia, Manuela De Giorgio, Barbara Pesatori, Angela Cecilia Montano, Nicola Bassotti, Alessandra |
author_facet | Cortini, Francesca Marinelli, Barbara Seia, Manuela De Giorgio, Barbara Pesatori, Angela Cecilia Montano, Nicola Bassotti, Alessandra |
author_sort | Cortini, Francesca |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5088665 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-50886652016-11-07 Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report Cortini, Francesca Marinelli, Barbara Seia, Manuela De Giorgio, Barbara Pesatori, Angela Cecilia Montano, Nicola Bassotti, Alessandra J Med Case Rep Case Report 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. BioMed Central 2016-10-31 /pmc/articles/PMC5088665/ /pubmed/27799058 http://dx.doi.org/10.1186/s13256-016-1087-0 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Cortini, Francesca Marinelli, Barbara Seia, Manuela De Giorgio, Barbara Pesatori, Angela Cecilia Montano, Nicola Bassotti, Alessandra Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title | Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title_full | Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title_fullStr | Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title_full_unstemmed | Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title_short | Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report |
title_sort | next-generation sequencing and a novel col3a1 mutation associated with vascular ehlers–danlos syndrome with severe intestinal involvement: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088665/ https://www.ncbi.nlm.nih.gov/pubmed/27799058 http://dx.doi.org/10.1186/s13256-016-1087-0 |
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