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Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.

Authors
 Borum Sagong  ;  Jeong-In Baek  ;  Jinwoong Bok  ;  Kyu-Yup Lee  ;  Un-Kyung Kim 
Citation
 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, Vol.80 : 78-81, 2016 
Journal Title
 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 
ISSN
 0165-5876 
Issue Date
2016
MeSH
Adolescent ; Asian Continental Ancestry Group/genetics* ; Codon, Nonsense ; Computational Biology ; DNA Mutational Analysis ; Female ; Hearing Loss, Sensorineural/genetics* ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Membrane Proteins/genetics* ; Pedigree ; Pseudogenes/genetics* ; Republic of Korea
Keywords
DFNB16 ; Hearing loss ; STRC ; Stereocilin ; Targeted sequencing
Abstract
Hereditary hearing loss is a heterogeneous disorder that results in a common sensorineural disorder. To date, more than 150 loci and 89 genes have been reported for non-syndromic hearing loss. Next generation sequencing has recently been developed as a powerful genetic strategy for identifying pathogenic mutations in heterogeneous disorders with various causative genes. In this study, we performed targeted sequencing to identify the causative mutation in a Korean family that had moderate hearing loss. We targeted 64 genes associated with non-syndromic hearing loss and sorted the homozygous variations according to the autosomal recessive inheritance pattern of the family. Implementing a bioinformatic platform for filtering and detecting variations allowed for the identification of two variations within different genes (c.650G>A in TRIOBP and c.4057C>T in STRC). These variants were selected for further analysis. Among these, c.4057C>T (p.Q1353X) was a divergent sequence variation between the STRC gene and the STRC pseudogene. This was the critical difference that resulted in loss of the protein-coding ability of the pseudogene. Therefore, we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss. This result suggests that application of targeted sequencing will be valuable for the diagnosis of heterogeneous disorders.
Full Text
http://www.sciencedirect.com/science/article/pii/S0165587615005984
DOI
10.1016/j.ijporl.2015.11.018
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Bok, Jin Woong(복진웅) ORCID logo https://orcid.org/0000-0003-1958-1872
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089
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