2024-03-29T14:31:58Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00007182
2022-12-14T03:54:11Z
461:848:849
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
Moteki, Hideaki
Nishio, Shin-ya
Hashimoto, Shigenari
Takumi, Yutaka
Iwasaki, Satoshi
Takeichi, Norihito
Fukuda, Satoshi
Usami, Shin-ichi
autosomal dominant hearing loss
genotype-phenotype correlations
mid-frequency hearing loss
TECTA
zona pellucida domain
信州大学博士(医学)・学位論文・平成24年7月3日授与(乙第1146号)・茂木英明
TECTA gene encodes alpha-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intracochlear sound transmission. The TECTA mutations are one of the most frequent causes of autosomal dominant (AD) hearing loss and genotype-phenotype correlations are associated with mutations of TECTA in exons according to alpha-tectorin domains. In this study, we investigated the prevalence of hearing loss caused by TECTA mutations in Japanese AD hearing loss families, and confirmed genotype-phenotype correlation, as well as the intracellular localization of missense mutations in the alpha-tectorin domain. TECTA mutations were detected in 2.9% (4/139) of our Japanese AD hearing loss families, with the prevalence in moderate hearing loss being 7.7% (4/52), and all patients showed typical genotype-phenotype correlations as previously described. The present in vitro study showed differences of localization patterns between wild type and mutants, and suggested that each missense mutation may lead to a lack of assembly of secretion, and may reduce the incorporation of alpha-tectorin into the tectorial membrane. Journal of Human Genetics (2012) 57, 587-592; doi:10.1038/jhg.2012.73; published online 21 June 2012
Article
JOURNAL OF HUMAN GENETICS. 57(9):587-592 (2012)
journal article
NATURE PUBLISHING GROUP
2012-09
application/pdf
JOURNAL OF HUMAN GENETICS
9
57
587
592
1434-5161
AA11206160
https://soar-ir.repo.nii.ac.jp/record/7182/files/H24Otsu1146_Moteki.pdf
eng
22718023
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=22718023
10.1038/jhg.2012.73
https://doi.org/10.1038/jhg.2012.73