Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

The Correlation Between Fear Avoidance Beliefs and Physical Activity in Unilateral Vestibulopathies.

Background And Purpose: In individuals with unilateral vestibulopathy (UVP), physical activity (PA) is recommended to stimulate central vestibular compensation. However, the presence of fear avoidance beliefs might negatively influence PA. The objectives of this study were to investigate the relationship between fear avoidance beliefs and PA and to compare PA levels between individuals with UVP in an acute/subacute vs chronic phase.

Predictors of Chronic Dizziness in Acute Unilateral Vestibulopathy: A Longitudinal Prospective Cohort Study.

Objective: Chronic dizziness after acute unilateral vestibulopathy (AUVP) causes significant social and economic burdens. This study aims to identify predictors of chronic dizziness.

Study Design: Prospective, longitudinal cohort study.

Phenotypic spectrum of the first Belgian founder: a large multi-exon deletion with a varying phenotype.

Background: Variants in the gene are a frequent cause of hypertrophic cardiomyopathy (HCM) but display a large phenotypic heterogeneity. Founder mutations are often believed to be more benign as they prevailed despite potential negative selection pressure. We detected a pathogenic variant in (del exon 23-26) in several probands.