Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening,Molecular Genetics & Genomic Medicine

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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-05 , DOI: 10.1002/mgg3.1502
Takaaki Sawada ₁ , Jun Kido ₁ , Keishin Sugawara ₁ , Shirou Matsumoto ₁ , Fumio Takada ₂ , Kazuya Tsuboi ₃ , Akira Ohtake ₄ , Fumio Endo _{1,

5} , Kimitoshi Nakamura ₁

Affiliation

In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD‐associated variants were detected. In high‐risk screening, 18,235 individuals who had symptoms and/or a family history of FD were screened by March 2019, and 236 individuals from 143 families with 101 FD‐associated variants were detected. Totally 3, 116 variants were detected; 41 of these were not registered in Fabry‐database.org or ClinVar and 33 were definitely novel. Herein, we report the clinical outcomes and discuss the pathogenicity of the 41 variants.

中文翻译：

通过新生儿和高危筛查检测日本患者中新型法布里病相关致病变异

日本于 2006 年开始使用干血斑对法布里病 (FD) 进行新生儿和高危筛查，法布里病是一种由GLA突变引起的遗传性 X 连锁疾病。在新生儿筛查中，截至 2018 年 12 月，筛查了 599,711 名新生儿，其中 57 名新生儿接受了筛查。检测到来自 54 个家庭的新生儿有 26 个 FD 相关变异。在高风险筛查中，截至 2019 年 3 月，对 18,235 名有 FD 症状和/或家族史的个体进行了筛查，并检测到来自 143 个家庭的 236 名个体具有 101 个 FD 相关变异。共检测出3个116个变种；其中 41 个未在 Fabry‐database.org 或 ClinVar 中注册，33 个绝对是新颖的。在此，我们报告临床结果并讨论 41 种变异的致病性。

更新日期：2020-11-16

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