发育性和癫痫性脑病成年人的基因检测——我们知道什么?

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI:10.1515/medgen-2022-2144
Ilona Krey, Kathrine M Johannesen, Oona Kohnen, Johannes R Lemke
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引用次数: 0

摘要

摘要与受类似影响儿童的常规诊断方法相比,对成人发育性和癫痫性脑病(DEE)潜在遗传原因的了解仍然有限。对患有避蚊胺的成年人进行有充分记录的纵向研究,对于了解各自个体的自然史至关重要。这些信息具有重要价值,尤其是对具有相同基因诊断的新诊断儿童的基因咨询,并可能影响受影响个体的治疗和管理。在我们的荟萃分析中,我们概述了成年避蚊胺队列中最常见的遗传发现(n=1020n=1020)。在成人DEE中,主要与致病性或可能致病性变体相关的基因是SCN1A,其次是MECP2和CHD2。采用外显子组测序和调用单核苷酸变体和拷贝数变体的研究与近50的诊断产率相关 %. 最后,我们强调了三个显著的病例,每个病例都代表了有史以来最古老的基因诊断个体。 e.,Angelman综合征、Miller–Dieker综合征和CAMK2A相关疾病,并描述从这些成年人身上学到的教训。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic testing in adults with developmental and epileptic encephalopathy - what do we know?

Knowledge of underlying genetic causes of developmental and epileptic encephalopathies (DEE) in adults is still limited when compared to the routine diagnostic approach in similarly affected children. A well-documented longitudinal study of adults with DEE is of utmost importance to understand the natural history of the respective entity. This information is of great value especially for genetic counselling of newly diagnosed children with identical genetic diagnoses and may impact treatment and management of affected individuals. In our meta-analysis we provide an overview of the most recurrent genetic findings across an adult DEE cohort (n=1,020). The gene mostly associated with a pathogenic or likely pathogenic variant in adult DEE is SCN1A, followed by MECP2 and CHD2. Studies employing exome sequencing and calling of both single nucleotide variants and copy number variants are associated with diagnostic yields of almost 50 %. Finally, we highlight three remarkable cases, each representing the oldest individual ever published with their genetic diagnosis, i. e., Angelman syndrome, Miller-Dieker syndrome, and CAMK2A-related disorder, and describe lessons learned from each of these adults.

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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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