The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene
Annals of Laboratory Medicine
;
: 259-262, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-56699
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Gelsolina
/
Polimorfismo de Nucleótido Simple
/
Amiloidosis Familiar
/
Pueblo Asiatico
/
República de Corea
/
Genotipo
/
Heterocigoto
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2016
Tipo del documento:
Artículo
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