Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

BMC Medical Genetics
Nari RyuUn-Kyung Kim

Abstract

One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutamate transporter 3 (VGLUT3), and among its isoforms (VGLUT1-3), only VGLUT3 is expressed selectively in the inner hair cells (IHCs). VGLUT3 transports the neurotransmitter glutamate into the synaptic vesicles of the IHCs. Mutation of the SLC17A8 gene is reported to be associated with DFNA25 (deafness, autosomal dominant 25), an autosomal dominant non-syndromic hearing loss (ADNSHL) in humans. In this study, we performed a genetic analysis of 87 unrelated Korean patients with ADNSHL to determine whether the SLC17A8 gene affects hearing ability in the Korean population. We found a novel heterozygous frameshift mutation, 2 non-synonymous variations, and a synonymous variation. The novel frameshift mutation, p.M206Nfs*4, in which methionine is changed to asparagine at amino acid position 206, resulted in a termination codon at amino acid position 209. This alteration is predicted to encode a truncated protein lacking transmembrane domains 5 to 12. This mutation is located in a highly conserved region in VGLUT3 across multiple...Continue Reading

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Citations

Aug 28, 2019·Laryngoscope Investigative Otolaryngology·Aiden Eliot Shearer, Marlan R Hansen
Jan 9, 2019·Cold Spring Harbor Perspectives in Medicine·Stuart L JohnsonWalter Marcotti
Apr 16, 2020·Journal of Clinical Medicine·Romolo Daniele De SiatiNaïma Deggouj
Jul 19, 2019·Hearing Research·Anne G M SchilderHelen Blackshaw
Nov 17, 2021·The Journal of Physiology·Yuvraj JoshiRégis Nouvian

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Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

SIFT
Primer3web
Mutation Taster
Chromas Lite
PolyPhen
CLC Sequence Viewer
Sequencing Analysis

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