A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family-Reference-Cited by-同舟云学术

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

Published:2017-02-09 Issue:3 Volume:51 Page:141-145
ISSN:1538-5744
Container-title:Vascular and Endovascular Surgery
language:en
Short-container-title:Vasc Endovascular Surg

Author:

Cortini Francesca¹²,Marinelli Barbara¹,Romi Silvia¹²,Seresini Agostino²³,Pesatori Angela Cecilia¹,Seia Manuela²,Montano Nicola⁴,Bassotti Alessandra⁵

Affiliation:

1. Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca’ Granda Foundation, Milano, Italy

2. Genetics Laboratory, IRCCS Ca’ Granda Foundation, Milan, Italy

3. Fondazione Grigioni per il Morbo di Parkinson, Milano, Italy

4. Department of Internal Medicine, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore & Department of Clinical Sciences and Health Community, University of Milan, Italy

5. Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca’ Granda Foundation, Milan, Italy

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.

Publisher

SAGE Publications

Subject

Cardiology and Cardiovascular Medicine,General Medicine,Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1177/1538574417692114

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