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Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen". 柏林：PD博士。安妮·格雷戈尔关于“神经发育障碍的模型系统”的适应。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2045
Anne Gregor
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引用次数: 0
Bonn: Prof. Silvia Paracchini, PhD, Professor of Neurodevelopmental Genomics. 波恩：神经发育基因组学教授Silvia Paracchini博士。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2048
Silvia Paracchini
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引用次数: 0
Genetic diagnosis of the Ehlers-Danlos syndromes. 埃勒-丹洛斯综合征的遗传诊断。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2061
Johannes Zschocke, Serwet Demirdas, Fleur S van Dijk

The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility.

Ehlers-Danlos综合征（EDS）代表了一组遗传多样性疾病，其特征是关节过度活动、皮肤过度伸展和影响皮肤和其他器官的结缔组织脆弱的可变组合。根据临床特征，已经描述了13种不同类型的EDS，其中12种是由21个已确认基因的致病变异引起的单基因疾病。发病机制与胶原形成和/或稳定性的紊乱有关。目前还没有发现多动性EDS （hEDS）的单基因原因，这是一种更常见的EDS类型，在大多数受影响的个体中不太可能代表单基因疾病，目前还不能通过遗传调查来诊断。本文总结了单基因EDS类型的临床特征和分子基础，强调了诊断挑战，并为患者的分子检查提供了指导。一般来说，如果临床特征显示为单基因EDS型，则需要进行基因检测，但对于其他多动性病例通常无效。
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引用次数: 0
Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau. “2017年GfH-Juniorakademie”（德语）。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2056
Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel
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引用次数: 0
Monitoring des nicht-invasiven Pränataltests (NIPT). 非侵入性产前检测（NIPT）。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2052
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引用次数: 0
Ankündigung der GfH-Jahrestagung 2025Grußwort des Tagungspräsidenten: Genetics connects - Genetik verbindet. GfH 2025年年会主席致辞：基因连接。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2047
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引用次数: 0
Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag. “蒂莫·格林80岁生日问候”。.生日
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2044
Klaus Zerres
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引用次数: 0
Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Nachruf John M. Opitz， 1935年8月15日在汉堡出生。2023年10月在美国犹他州盐湖城举行。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2055
Anita Rauch, André Reis
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引用次数: 0
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes. 单基因Ehlers-Danlos综合征的临床诊断。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2060
Fleur S van Dijk, Chloe Angwin, Serwet Demirdas, Neeti Ghali, Johannes Zschocke

Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.

单基因ehers - danlos综合征（EDS）是一组遗传性结缔组织疾病，其临床特征为关节过度活动、皮肤过度伸展和/或脆弱，以及普遍的组织脆弱。大规模平行测序的基因面板检测是目前确认单基因EDS类型诊断的金标准。我们的目标是通过文本和照片报告单基因EDS类型的临床特征（组合），以帮助临床诊断，尽管基因检测的可能性取得了重大进展，但在诊断过程中，包括病史、家族史和体格检查在内的全面临床评估仍然很重要。此外，在无法进行分子诊断的情况下，临床诊断仍然可以指导管理和监测。
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引用次数: 0
Bonn: Prof. Dr. rer. nat. Kerstin U. Ludwig W2-Professur Immungenetik. 波恩：教授博士。Kerstin U. Ludwig W2免疫遗传学教授。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2054
Kerstin U Ludwig
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引用次数: 0
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