Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Makrygiannis, Georgios; Loeys, Bart; Defraigne, Jean-Olivier; SAKALIHASAN, Natzi

doi:10.1016/j.ejmg.2015.10.009

Article (Scientific journals)

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Makrygiannis, Georgios; Loeys, Bart; Defraigne, Jean-Olivier et al.

2015 • In European Journal of Medical Genetics

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/188626

DOI
10.1016/j.ejmg.2015.10.009

PubMed
26497932

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Keywords :

COL3A1; Cervical artery dissection; Dissection; Mutation; Vascular type Ehlers-Danlos syndrome

Abstract :

[en] Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G>A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid.

Disciplines :

Surgery

Author, co-author :

Makrygiannis, Georgios ; Université de Liège > Département des sciences cliniques > Chirurgie cardio-vasculaire et thoracique

Loeys, Bart

Defraigne, Jean-Olivier ; Université de Liège > Département des sciences cliniques > Chirurgie cardio-vasculaire et thoracique

SAKALIHASAN, Natzi ; Centre Hospitalier Universitaire de Liège - CHU > Service de Chirurgie cardio-vasculaire et thoracique

Language :

English

Title :

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Publication date :

2015

Journal title :

European Journal of Medical Genetics

ISSN :

1769-7212

eISSN :

1878-0849

Publisher :

Elsevier, Netherlands

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 29 November 2015

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