A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family. Issue 12 (12th November 2018)

• Record Type: Journal Article
• Authors: Feng, Xuemin; Zhu, Hui; Zhao, Teng; Hou, Yanbo; Liu, Jingyao
• Is Part Of: Brain and behavior. Volume 8:Issue 12(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-11-12
• Subjects: Chinese family -- duplicate mutation -- Finnish gelsolin amyloidosis -- gelsolin; Neurology -- Periodicals; Neurosciences -- Periodicals; Psychology -- Periodicals; Psychiatry -- Periodicals; 616.8005
• DOI: 10.1002/brb3.1151
• Languages: English
• ISSNs: 2162-3279

Abstract

Abstract: 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. Abstract : Merely, few cases of Finnish gelsolin amyloidosis (AGel amyloidosis, FGA) have been reported in China. In this study, we report a case of FGA in a Chinese family. A new heterozygous G duplicate mutation in the GSN gene was identified, which is autosomal dominant, causes reading frameshift in GSN transcript translation, and leads to FGA in a Chinese family.