Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 2 - Pathogenic variants in COL3A1: dominant negative effect by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.
The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 2 of 3 - Pathogenic variants in COL3A1: dominant negative effect, the pathogenic variants in the COL3A1 gene that leads to a “dominant negative effect” are discussed (i.e. glycine substitutions within the triple helix and splice-site variants, in-frame insertions/deletions/duplications). The genotype/phenotype correlation associated with each type of variant is also introduced. Intended for medical students, trainees or other healthcare professionals. Video in English
This Pill of knowledge (PoK) video was filmed at the Medium-Sized Arteries Working Group (MSA WG)'s face to face meeting and vascular Ehlers-Danlos syndrome (vEDS) study day in London on July 1st, 2019 with support from the Ehlers-Danlos Society.
PoKs are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
To learn more about the MSA-WG: vascern.eu/expertise/rare-dis...