A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family

Francesca Cortini, Barbara Marinelli, Silvia Romi, Agostino Seresini, Angela Cecilia Pesatori, Manuela Seia, Nicola Montano, Alessandra Bassotti

Research output: Contribution to journalArticle

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

Original languageEnglish
Pages (from-to)141-145
Number of pages5
JournalVascular and Endovascular Surgery
Volume51
Issue number3
DOIs
Publication statusPublished - Apr 1 2017

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Keywords

  • bioinformatics analysis
  • COL3A1 gene
  • Ehlers-Danlos syndrome vascular type
  • Haloplex target enrichment
  • next-generation sequencing
  • penetrance

ASJC Scopus subject areas

  • Surgery
  • Cardiology and Cardiovascular Medicine

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