ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2022
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Public perceptions and willingness to accept somatic gene therapy: A Belgian survey study.Open research Europe · 2025Article
- How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.Journal of community genetics · 2024Article
- Novel advanced patient-derivedFrontiers in neurologyReview
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6 authors.
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Abstract
Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with an overt disease. Clinical expressivity, on the other hand, describes the degree to which certain disease characteristics are present. In this article, we discuss the implications of reduced penetrance on genetic testing and counseling, outline how penetrance can be estimated in rare diseases using large cohorts and review the ethical, legal and social implications of studying non-manifesting carriers of pathogenic mutations. We highlight the interplay between reduced penetrance and the prodromal phase of a neurodegenerative disorder through the example of monogenic Parkinson's disease and discuss the therapeutic implications.
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