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Case Report

Ann Lab Med 2016; 36(3): 259-262

Published online May 1, 2016 https://doi.org/10.3343/alm.2016.36.3.259

Copyright © Korean Society for Laboratory Medicine.

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Kyoung-Jin Park, M.D.1, Jong-Ho Park, B.S.1, June-Hee Park, B.S.2, Eun Bin Cho, M.D.3, Byoung Joon Kim, M.D.3, and Jong-Won Kim, M.D.1,4

Department of Health Sciences and Technology1, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University; Samsung Biomedical Research Institute2, Samsung Medical Center; Department of Neurology3, Samsung Medical Center, Sungkyunkwan University School of Medicine; Department of Laboratory Medicine & Genetics4, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Jong-Won Kim
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2705
Fax: +82-2-3410-2719
E-mail: kimjw@skku.edu

Byoung Joon Kim
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2379
Fax: +82-2-3410-0423
E-mail: bjkim@skku.edu

Received: September 3, 2015; Revised: January 7, 2016; Accepted: January 29, 2016

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.

Keywords: Hereditary gelsolin amyloidosis (HGA), Gelsolin, Neuropathy, Whole-exome sequencing (WES)