SLC26A4 Mutations in Korean Population / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
; : 733-737, 2014.
Article
en Ko
| WPRIM
| ID: wpr-644587
Biblioteca responsable:
WPRO
ABSTRACT
SLC26A4 mutations are common cause of congenital hearing loss in East Asia. The carrier frequency of SLC26A4 mutations is 1 in 75 in Korean populations. The SLC26A4 mutation spectrum varies according to the population. The most common mutation in Korean is replacement of histidine by arginine at codon 723 followed by exchange of guanine for adenine at the consensus acceptor splice site of intron 7, adenine to guanine change at position +3 transition donor splice site of intron 9, methionine to valine at position 147, and frameshift mutation by insertion T at N-terminal 2. Recent studies analyzed the genotype-phenotype correlation of SLC26A4 mutation and suggested that surface expression ratio of pendrin and residual anion exchange activity was related to the genotype of SLC26A4 mutations. The targeted drug to Korean SLC26A4 mutations would be helpful in preserving hearing in patients with SLC26A4 mutations.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
/
Arginina
/
Donantes de Tejidos
/
Valina
/
Codón
/
Adenina
/
Intrones
/
Mutación del Sistema de Lectura
/
Consenso
/
Asia Oriental
Tipo de estudio:
Guideline
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
Ko
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Año:
2014
Tipo del documento:
Article