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

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

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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

Cite this

Cortini, F., Marinelli, B., Romi, S., Seresini, A., Pesatori, A. C., Seia, M., Montano, N., & Bassotti, A. (2017). A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family. Vascular and Endovascular Surgery, 51(3), 141-145. https://doi.org/10.1177/1538574417692114

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

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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.",

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10.1177/1538574417692114