Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI:10.1515/medgen-2022-2128
Sebastian Heinzel, Deborah Mascalzoni, Tobias Bäumer, Daniela Berg, Meike Kasten, Norbert Brüggemann
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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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遗传运动障碍外显率降低的临床相关性和转化影响
外显率降低是单基因疾病中一个重要但报道不足的方面。它指的是致病性变体携带者没有表现出明显疾病的现象。另一方面,临床表现力描述了某些疾病特征的存在程度。在这篇文章中,我们讨论了外显率降低对基因检测和咨询的影响,概述了如何使用大型队列来估计罕见病的外显率,并回顾了研究致病突变的非显性携带者的伦理、法律和社会影响。我们以单基因帕金森病为例,强调了外显率降低与神经退行性疾病前驱期之间的相互作用,并讨论了其治疗意义。
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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