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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing

机译：通过全外显子测序确定了在多个先天性异常性低渗性癫痫综合征2（MCAHS2）家族谱系中确定的可能影响PIGA剪接的致病变异

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BackgroundGlycosylphosphatidylinositol (GPI) anchoring is a special type of protein posttranslational modification, by which proteins with diverse function are attached to cell membrane through a covalent linkage between the protein and the glycolipid. Phosphatidylinositol glycan anchor biosynthesis class A (PIGA) is a key enzyme in GPI anchor biosynthesis, somatic mutations or genetic variants of which have been associated with paroxysmal nocturnal hemoglobinuria (PNH), or PIGA deficiency, respectively. More than 10 PIGA pathogenic or likely pathogenic variants have been reported in a wide spectrum of clinical syndromes of PIGA deficiency, including multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2).

机译：背景技术糖基磷脂酰肌醇（GPI）锚定是一种特殊类型的蛋白质翻译后修饰，通过这种修饰，具有多种功能的蛋白质通过蛋白质和糖脂之间的共价键连接到细胞膜上。磷脂酰肌醇聚糖锚定生物合成A类（PIGA）是GPI锚定生物合成中的关键酶，其体细胞突变或遗传变异分别与阵发性夜间血红蛋白尿（PNH）或PIGA缺乏有关。在广泛的PIGA缺乏症临床综合征中，已经报告了超过10种PIGA致病性或可能的致病性变体，包括多个先天性异常性低渗性癫痫综合征2（MCAHS2）。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Junli Yang; Qiong Wang; Qingcui Zhuo; Huiling Tian; Wen Li; Fang Luo; Jinghui Zhang; Dan Bi; Jing Peng; Dong Zhou; Huawei Xin;
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作者单位

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年(卷),期 2018(6),5
年度 2018
页码 739–748
总页数 10
原文格式 PDF
正文语种
中图分类遗传学;
关键词
glycosylphosphatidylinositol GPI IGD inherited GPI deficiency MCAHS2 multiple congenital anomalies hypotonia‐seizures syndrome 2 phosphatidylinositol glycan anchor biosynthesis class A PIGA PIGA deficiency splicing defect WES whole‐exome sequencing;

机译：糖基磷脂酰肌醇;GPI;IGD;遗传性GPI缺乏;MCAHS2;多发性先天性异常性低渗性癫痫综合征2;磷脂酰肌醇聚糖锚定生物合成A类;PIGA;PIGA缺乏;剪接缺陷;WES;全基因组测序;

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外文文献

1. A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia [J] . Christiane M. Neuhofer, Rudolf Funke, Bernd Wilken, Molecular syndromology . 2020,第1期

机译：仔猪与多发性异常癫痫发作综合征2（MCAHS2）相关的一种新型突变，其在一个男孩中，具有严重癫痫和牙龈增生的组合
2. A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia [J] . Neuhofer C.M., Funke R., Wilken B., Molecular syndromology . 2020,第1期

机译：猪的一种新型突变与多个先天性异常 - 低氧癫痫癫痫综合征2（MCAHS2）的杀菌，其具有严重癫痫和牙龈增生的组合
3. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype [J] . Nadia Skauli, Sean Wallace, Samuel C. C. Chiang, Genes . 2016,第12期

机译：在两个兄弟中的新型PIGT变异：多发性先天性异常-低钾血症发作综合征3表型的扩大。
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia [O] . Christiane M. Neuhofer, Rudolf Funke, Bernd Wilken, 2020

机译：猪的一种新型突变与多个先天性异常 - 低氧癫痫癫痫综合征2（MCAHS2）的杀菌其具有严重癫痫和牙龈增生的组合
6. A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia [O] . Christiane M. Neuhofer, Rudolf Funke, Bernd Wilken, 2020

机译：在具有严重癫痫和牙龈增生的男孩中，与多个先天性异常 - 低氧癫痫癫痫综合征2（MCAHS2）相关联的新突变

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing

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