welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
Vascular Ehlers-Danlos Syndrome in Siblings with Biallelic COL3A1 Sequence Variants and Marked Clinical Variability in the Extended Family
source: European Journal of Human Genetics
year: 2014
authors: Jørgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, Leistritz DF, Byers PH
summary/abstract:Vascular Ehlers-Danlos Syndrome (vEDS), also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1, which encodes the chains of type III procollagen. We identified a family in which there was marked clinical variation with the earliest death due to extensive aortic dissection at age 15 years and other family members in their eighties with no complications. The proband was born with right-sided clubfoot but was otherwise healthy until he died unexpectedly at 15 years. His sister, in addition to signs consistent with vascular EDS, had bilateral frontal and parietal polymicrogyria. The proband and his sister each had two COL3A1 sequence variants, c.1786C>T, p.(Arg596*) in exon 26 and c.3851G>A, p.(Gly1284Glu) in exon 50 on different alleles. Cells from the compound heterozygote produced a reduced amount of type III procollagen, all the chains of which had abnormal electrophoretic mobility. Biallelic sequence variants have a significantly worse outcome than heterozygous variants for either null mutations or missense mutations, and frontoparietal polymicrogyria may be an added phenotype feature. This genetic constellation provides a very rare explanation for marked intrafamilial clinical variation due to sequence variants in COL3A1.
organization: University Hospital of North Norway; Sunnaas Rehabilitation Hospital; University of WashingtonDOI: 10.1038/ejhg.2014.181
read more full text source
expertly curated content related to this topic
-
Diana Lebron, MDDiana Lebron, MD, is a well known heada...
-
Clair FrancomanoDirector, Adult Genetics at Greater Balt...
-
Clinical Utility Gene Card for: Ehlers-Danlos Syndrome Types I-VII and Variants – Update 2012Ehlers–Danlos syndrome (EDS) types I/I...
-
Cardiac Valve Disease: An Unreported Feature in Ehlers Danlos Syndrome Arthrocalasia Type?Ehlers Danlos syndrome (EDS) athrocalasi...
-
Biomarkers in Vascular Ehlers-Danlos Syndrome (MEDIC)The purpose of this study is to determin...
-
Ehlers-Danlos syndrome (1)http://www.meddean.luc.edu/lumen/MedEd/m...
-
Characteristics of Ehlers-Danlos syndromehttp://wiki.ggc.usg.edu/images/e/e2/Tn00...