The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

@article{Frank2015TheTO,
  title={The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome},
  author={Michael Frank and Juliette Albuisson and Brigitte Ranque and Lisa Golmard and Jean-Michael Mazzella and Laurence Bal-Theoleyre and Anne-Laure Fauret and Tristan Mirault and Nicolas Denari{\'e} and Elie R Mousseaux and Pierre Boutouyrie and Jean-noel Fiessinger and Joseph Emmerich and Emmanuel Messas and Xavier Jeunema{\^i}tre},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={1657-1664}
}
Vascular Ehlers–Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n=71), (2) splice-site and in-frame insertions–deletions (n=36), (3) variants leading to haplo-insufficiency (n=7), (4) non-glycine missense… CONTINUE READING