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.
2015In European Journal of Medical Genetics
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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 :
Copyright (c) 2015. Published by Elsevier Masson SAS.
Available on ORBi :
since 29 November 2015

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