A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
In Exp Dermatol, Mar 2013
The vascular type of the Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV, EDS IV; OMIM #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the COL3A1 gene resulting in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death.
Genetic determinants of juvenile stroke.
Brescia, Italy. In Thromb Res, Mar 2012
Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age.
Spontaneous arterial dissection: phenotype and molecular pathogenesis.
Heidelberg, Germany. In Cell Mol Life Sci, 2010
Genetic linkage analysis lead to the identification of mutations in different disease-causing genes involved in the biosynthesis of the extracellular matrix (FBN1, COL3A1), in transforming growth factor (TGF) beta signaling (FBN1, TGFBR1, TGFBR2) and in the SMC contractile system (ACTA2, MYH11).
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
Richmond, United States. In Placenta, 2009
The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24.