A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy
A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy
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DOI：
10.1016/j.braindev.2016.02.008
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发表时间：
2016-09-01
影响因子：
1.7
通讯作者：
Woo, Young Jong
中科院分区：
文献类型：
--
作者：
Kim, Young Ok;Yang, Jae Hyuk;Woo, Young Jong
早发性癫痫性脑病（EOEEs）是一种严重且难治性的癫痫发作，伴有进行性智力残疾和其他相关的神经系统合并症。全外显子组测序（WES）最近被用于确定未分类EOEE个体的致病基因突变。本研究使用WES来确定一个X连锁EOEE家系的致病变异。一种可能的变体（C。427 A>G，NM_002641.3; p.Lys143 G1 u，NP_002632.1），经桑格测序证实。通过血细胞表面糖基磷脂酰肌醇锚定蛋白的表达水平来评估这种PIGA突变的功能效应：先证者（11.0%）和其母亲（15.6%）红细胞上的CD 16显著降低。这是第二份关于不太严重的PIGA缺乏症的报告。(C)2016日本儿童神经病学学会。Elsevier B. V.出版，保留所有权利。
Early-onset epileptic encephalopathies (EOEEs) are severe and intractable infantile-onset epilepsies with progressive intellectual disability and other associated neurologic comorbidities. Whole-exome sequencing (WES) was recently used to determine the causative gene mutations in individuals with unclassified EOEEs. The present study used WES to determine the causative variant in a family with X-linked, EOEE. One potential variant (c. 427A>G, NM_002641.3; p.Lys143G1u, NP_002632.1) of the gene encoding phosphatidylinositol glycan biosynthesis class A protein (PIGA; PIGA) was found, which was verified by Sanger sequencing. The functional effect of this PIGA mutation was assessed by the surface expression levels of glycosylphosphatidylinositol-anchored proteins on blood cells: CD16 on red blood cells was significantly decreased in the proband (by 11.0%) and his mother (by 15.6%). This is the second report of a less-severe form of PIGA deficiency. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.