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

doi:10.1177/1538574417692114

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	141-145
Number of pages	5
Journal	Vascular and Endovascular Surgery
Volume	51
Issue number	3
DOIs	https://doi.org/10.1177/1538574417692114
Publication status	Published - Apr 1 2017

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

Access to Document

10.1177/1538574417692114

Fingerprint Dive into the research topics of 'A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family'. Together they form a unique fingerprint.

Cite this

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family. / Cortini, Francesca; Marinelli, Barbara; Romi, Silvia; Seresini, Agostino; Pesatori, Angela Cecilia ; Seia, Manuela ; Montano, Nicola; Bassotti, Alessandra.

In: Vascular and Endovascular Surgery, Vol. 51, No. 3, 01.04.2017, p. 141-145.

Research output: Contribution to journal › Article › peer-review

@article{e6d5497244ac400283513360b53a324b,

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

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.",

keywords = "bioinformatics analysis, COL3A1 gene, Ehlers-Danlos syndrome vascular type, Haloplex target enrichment, next-generation sequencing, penetrance",

author = "Francesca Cortini and Barbara Marinelli and Silvia Romi and Agostino Seresini and Pesatori, {Angela Cecilia} and Manuela Seia and Nicola Montano and Alessandra Bassotti",

year = "2017",

month = apr,

day = "1",

doi = "10.1177/1538574417692114",

language = "English",

volume = "51",

pages = "141--145",

journal = "Vascular and Endovascular Surgery",

issn = "1538-5744",

publisher = "SAGE Publications Inc.",

number = "3",

}

TY - JOUR

T1 - A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family

AU - Cortini, Francesca

AU - Marinelli, Barbara

AU - Romi, Silvia

AU - Seresini, Agostino

AU - Pesatori, Angela Cecilia

AU - Seia, Manuela

AU - Montano, Nicola

AU - Bassotti, Alessandra

PY - 2017/4/1

Y1 - 2017/4/1

N2 - 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.

AB - 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.

KW - bioinformatics analysis

KW - COL3A1 gene

KW - Ehlers-Danlos syndrome vascular type

KW - Haloplex target enrichment

KW - next-generation sequencing

KW - penetrance

UR - http://www.scopus.com/inward/record.url?scp=85018768202&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85018768202&partnerID=8YFLogxK

U2 - 10.1177/1538574417692114

DO - 10.1177/1538574417692114

M3 - Article

C2 - 28183226

AN - SCOPUS:85018768202

VL - 51

SP - 141

EP - 145

JO - Vascular and Endovascular Surgery

JF - Vascular and Endovascular Surgery

SN - 1538-5744

IS - 3

ER -