SLC26A4 Mutations in Korean Population / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 733-737, 2014.
Article
in Korean
| WPRIM
| ID: wpr-644587
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Arginine
/
Tissue Donors
/
Valine
/
Codon
/
Adenine
/
Introns
/
Frameshift Mutation
/
Consensus
/
Asia, Eastern
Type of study:
Practice guideline
Limits:
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Korean Journal of Otolaryngology - Head and Neck Surgery
Year:
2014
Type:
Article
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