一个新的位于外显子 1 的杂合 G 重复（c.100dupG）导致中国一个家族的凝胶原纤维蛋白淀粉样变性。
A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.
机构信息
Department of Neurology, The First Hospital, Jilin University, Jinlin, China.
Department of Internal Medicine, The center Hospital of Gongzhuling, Jilin, China.
出版信息
Brain Behav. 2018 Dec;8(12):e01151. doi: 10.1002/brb3.1151. Epub 2018 Nov 12.
OBJECTIVES
In this study, we report a case of Finnish gelsolin amyloidosis (FGA) in a Chinese family.
METHODS
The proband presented with a range of clinical symptoms that included epileptic seizures and multiple lesions in the brain. Whole exome sequencing of the Gelsolin (GSN) gene was performed, and the GSN mutation was identified through comparison with the known human genome sequences using Genetic Testing Intelligent Execution System.
RESULTS
The GSN gene sequencing revealed that a heterozygous G duplicate in exon1 (c.100dupG) of the GSN gene, which caused a frameshift in GSN transcript translation in the proband, his mother and daughter, but his brother did not have it.
CONCLUSION
We presented a new autosomal dominant heterozygous G duplicate mutation in exon1 of GSN gene, leading to FGA in a Chinese family.
目的
本研究报告了一个中国家族性芬兰型胶溶素淀粉样变性（FGA）病例。
方法
先证者表现出一系列临床症状，包括癫痫发作和脑部多处病变。对 Gelsolin（GSN）基因进行全外显子组测序，通过 Genetic Testing Intelligent Execution System 与已知人类基因组序列进行比较，鉴定 GSN 基因突变。
结果
GSN 基因测序显示，GSN 基因外显子 1（c.100dupG）杂合性 G 重复，导致先证者及其母亲和女儿的 GSN 转录翻译移码，但他的兄弟没有。
结论
我们在中国家族中发现了一个新的 GSN 基因外显子 1 杂合性 G 重复突变，导致 FGA。
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