Open AccessA new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
Author(s) -
Feng Xuemin,
Zhu Hui,
Zhao Teng,
Hou Yanbo,
Liu Jingyao
Publication year - 2018
Publication title -
brain and behavior
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.915
H-Index - 41
ISSN - 2162-3279
DOI - 10.1002/brb3.1151
Subject(s) - gelsolin , proband , genetics , frameshift mutation , biology , gene , mutation , compound heterozygosity , exome sequencing , actin
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.