GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing
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- 作者：Hao Penga ; Xiaojuan Xub ; xiaojuanyanwu@163.com" class="auth_mail" title="E-mail the corresponding author ; Lusi Zhangc ; Xuehong Zhangb ; Hexiang Penga ; Yu Zhenga ; Sanchuan Luoa ; Hui Guoa ; Kun Xiaa ; Jiada Lia ; Hongliang Yaod ; Zhengmao Hua ; huzhengmao@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：FD ; Fabry disease ; XCI ; X-chromosome inactivation ; α-Gal A ; α-galactosidase A ; CGN ; chronic glomerulonephritis ; SNVs ; Single nucleotide variants ; GATK ; Genome Analysis Toolkit ; LCLs ; lymphoblastoid cell lines
- 刊名：Gene
- 出版年：2016
- 出版时间：10 January 2016
- 年：2016
- 卷：575
- 期：2
- 页码：363-367
- 全文大小：543 K
文摘
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Through exome sequencing we identified the variation p.E66Q of GLA in a Chinese FD pedigree.
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The male patients had little enzymatic activity while female patients had residual enzymatic activity.
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Female patients exhibited preferential XCI of the normal p.E66 allele.
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Our results implicated the GLA mutation E66Q in this Chinese renal variant Fabry Disease pedigree.