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

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,...

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Autores principales: Feng, Xuemin, Zhu, Hui, Zhao, Teng, Hou, Yanbo, Liu, Jingyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305910/
https://www.ncbi.nlm.nih.gov/pubmed/30417985
http://dx.doi.org/10.1002/brb3.1151
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author Feng, Xuemin
Zhu, Hui
Zhao, Teng
Hou, Yanbo
Liu, Jingyao
author_facet Feng, Xuemin
Zhu, Hui
Zhao, Teng
Hou, Yanbo
Liu, Jingyao
author_sort Feng, Xuemin
collection PubMed
description 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.
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spelling pubmed-63059102019-01-02 A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family Feng, Xuemin Zhu, Hui Zhao, Teng Hou, Yanbo Liu, Jingyao Brain Behav Original Research 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. John Wiley and Sons Inc. 2018-11-12 /pmc/articles/PMC6305910/ /pubmed/30417985 http://dx.doi.org/10.1002/brb3.1151 Text en © 2018 The Authors. Brain and Behavior published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Research
Feng, Xuemin
Zhu, Hui
Zhao, Teng
Hou, Yanbo
Liu, Jingyao
A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title_full A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title_fullStr A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title_full_unstemmed A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title_short A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
title_sort new heterozygous g duplicate in exon1 (c.100dupg) of gelsolin gene causes finnish gelsolin amyloidosis in a chinese family
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305910/
https://www.ncbi.nlm.nih.gov/pubmed/30417985
http://dx.doi.org/10.1002/brb3.1151
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