Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.

The vast majority of reported (likely) pathogenic missense variants in the genes coding for the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the Gly-Xaa-Yaa repeat sequence of the triple helical domain. Their phenotypic consequences and deleterious effects have been well-documented. However, with increasing access to molecular diagnostic testing based on next-generation sequencing techniques, such as sequencing of multi-gene panels and whole-exome sequencing, non-glycine substitutions are more frequently identified in individuals suspected to have a heritable collagen disorder, but their pathogenic effect is often difficult to predict.

Exploring patient education unmet needs for rare and complex connective tissue and musculoskeletal diseases: A survey of health care providers' and patients' expectations in Europe.

Objective: The European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases involves health care providers (HCPs) from 8 European countries and 7 patients' representatives of European Patient Advocacy Groups. The objective was to evaluate current practice and unmet needs for patient education (PE) in Europe.

Methods: A questionnaire was sent to HCP members asking about the PE practices and another, to enquire about their needs, was sent to patients' associations in the different countries.