Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
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DOI：
10.1002/humu.24148
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发表时间：
2021-03
期刊：
影响因子：
3.9
通讯作者：
Pijnappel WWMP
中科院分区：
文献类型：
--
作者：
de Faria DOS;'t Groen SLMI;Hoogeveen-Westerveld M;Nino MY;van der Ploeg AT;Bergsma AJ;Pijnappel WWMP
庞贝氏症是一种由酸性α-葡萄糖苷酶基因（GAA）中的疾病相关变体引起的遗传性疾病。庞贝氏症GAA变体数据库（http：www.pompevariantdatabase.nl）是一个精心策划的、开源的、疾病特异性数据库，列出了截至2016年报告的疾病相关GAA变体、计算机模拟预测和临床表型。在这里，我们提供了一个更新，包括2020年之前发表的226种疾病相关变异。我们还列出了148种不引起庞贝氏症的常见GAA序列变异。仅在新生儿筛查项目中发现的严重程度未知的GAA变体被列为新特征，以表明表型仍然未知的原因。对常见的错义变体进行表达研究以预测其严重程度。更新后的庞贝氏症GAA变异数据库现在包括648种疾病相关变异，26种来自新生儿筛查的变异和237种严重程度未知的变异。需要定期更新庞贝氏症GAA变异数据库，以改善遗传咨询和基因型-表型关系的研究。本文介绍了庞贝氏症GAA变异数据库（http：//www.example.com）的更新，提供了与庞贝氏症遗传学相关的新变异和发现。www.pompevariantdatabase.nl更新包括从2016年至2020年期间发表的临床和/或研究研究中获得的基因型和表型，以及来自大型登记和新生儿筛查项目的数据。已对先前版本数据库中存在的变体进行了回顾性分析和更新。临床医生、议员和研究人员可以在开放访问的数据库中免费访问这些信息，以改善诊断过程，并帮助全球庞贝氏症患者的治疗决策。
Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database (http://www.pompevariantdatabase.nl) is a curated, open‐source, disease‐specific database, and lists disease‐associated GAA variants, in silico predictions, and clinical phenotypes reported until 2016. Here, we provide an update to include 226 disease‐associated variants that were published until 2020. We also listed 148 common GAA sequence variants that do not cause Pompe disease. GAA variants with unknown severity that were identified only in newborn screening programs were listed as a new feature to indicate the reason why phenotypes were still unknown. Expression studies were performed for common missense variants to predict their severity. The updated Pompe disease GAA variant database now includes 648 disease‐associated variants, 26 variants from newborn screening, and 237 variants with unknown severity. Regular updates of the Pompe disease GAA variant database will be required to improve genetic counseling and the study of genotype–phenotype relationships. This article describes an update of the Pompe disease GAA variant database (http://www.pompevariantdatabase.nl) providing new variants and findings related to the genetics of Pompe disease. The update includes genotypes and phenotypes obtained from clinical and/or research studies published between 2016 and 2020, as well as data from large registries and newborn screening programs. Variants that were already present in the previous version of the database have been retrospectively analyzed and updated. This information is freely accessible for clinicians, councilors and researchers in an open‐access database in order to improve the diagnostic process and to aid in decision making on the treatment of patients with Pompe disease worldwide.
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影响因子：
2.8
作者：
Guevara-Campos, Jose;Gonzalez-Guevara, Lucia;Cauli, Omar
通讯作者：
Cauli, Omar
影响因子：
11.1
作者：
Bergsma, Atze J.;In 't Groen, Stijn L. M.;Pijnappel, W. W. M. Pim
通讯作者：
Pijnappel, W. W. M. Pim
影响因子：
3.9
作者：
Nino, Monica Y.;in't Groen, Stijn L. M.;Pijnappel, W. M. Pim
通讯作者：
Pijnappel, W. M. Pim
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64.8
作者：
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通讯作者：
MacArthur, Daniel G
影响因子：
5
作者：
Kulessa, M.;Weyer-Menkhoff, I;Schaenzer, A.
通讯作者：
Schaenzer, A.