The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.
10.3343/alm.2016.36.3.259
- Author:
Kyoung Jin PARK
1
;
Jong Ho PARK
;
June Hee PARK
;
Eun Bin CHO
;
Byoung Joon KIM
;
Jong Won KIM
Author Information
1. Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea. kimjw@skku.edu
- Publication Type:Case Reports
- Keywords:
Hereditary gelsolin amyloidosis (HGA);
Gelsolin;
Neuropathy;
Whole-exome sequencing (WES)
- MeSH:
Amyloidosis, Familial/diagnosis/*genetics;
Asian Continental Ancestry Group/*genetics;
Base Sequence;
DNA Mutational Analysis;
Gelsolin/*genetics;
Genotype;
Heterozygote;
Humans;
Male;
Middle Aged;
Pedigree;
Polymorphism, Single Nucleotide;
Republic of Korea
- From:Annals of Laboratory Medicine
2016;36(3):259-262
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction. Diagnostic whole-exome sequencing (WES) revealed a p.D214Y heterozygous mutation in the gelsolin gene in affected members. We present the first report of a Korean family with HGA diagnosed by WES. WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies.
