Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Hum Genet. 2022 Dec;141(12):1837-1848. doi: 10.1007/s00439-022-02460-x. Epub 2022 May 30.
Angelman syndrome is a rare neurodevelopmental disorder caused by mutations affecting the chromosomal 15q11-13 region, either by contiguous gene deletions, imprinting defects, uniparental disomy, or mutations in the UBE3A gene itself. Phenotypic abnormalities are driven primarily, but not exclusively (especially in 15q11-13 deletion cases) by loss of expression of the maternally inherited UBE3A gene expression. The disorder was first described in 1965 by the English pediatrician Harry Angelman. Since that first description of three children with Angelman syndrome, there has been extensive research into the genetic, molecular and phenotypic aspects of the disorder. In the last decade, this has resulted in over 100 publications per year. Collectively, this research has led the field to a pivotal point in which restoring UBE3A function by genetic therapies is currently explored in several clinical trials. In this study, we employed a bibliometric approach to review and visualize the development of Angelman syndrome research over the last 50 years. We look into different parameters shaping the progress of the Angelman syndrome research field, including source of funding, publishing journals and international collaborations between research groups. Using a network approach, we map the focus of the research field and how that shifted over time. This overview helps understand the shift of research focus in the field and can provide a comprehensive handbook of Angelman syndrome research development.
天使综合征是一种罕见的神经发育障碍，由影响 15q11-13 染色体区域的基因突变引起，包括连续基因缺失、印记缺陷、单亲二体性或 UBE3A 基因突变本身。表型异常主要由母系遗传的 UBE3A 基因表达缺失驱动，但并非完全由其驱动（尤其是在 15q11-13 缺失病例中）。该疾病于 1965 年由英国儿科医生 Harry Angelman 首次描述。自首次描述了三名患有天使综合征的儿童以来，人们对该疾病的遗传、分子和表型方面进行了广泛的研究。在过去的十年中，每年发表的相关论文超过 100 篇。总的来说，这项研究使该领域达到了一个关键的转折点，目前正在通过基因疗法来恢复 UBE3A 的功能，并在几项临床试验中进行了探索。在本研究中，我们采用文献计量学方法回顾和可视化了过去 50 年来天使综合征研究的发展。我们研究了影响天使综合征研究领域进展的不同参数，包括资金来源、出版期刊以及研究小组之间的国际合作。我们使用网络方法绘制了研究领域的重点，并展示了其随时间的变化。该综述有助于理解该领域研究重点的转变，并提供了天使综合征研究发展的综合手册。
