@article{oai:soar-ir.repo.nii.ac.jp:00007182,
 author = {Moteki,  Hideaki and Nishio,  Shin-ya and Hashimoto,  Shigenari and Takumi,  Yutaka and Iwasaki,  Satoshi and Takeichi,  Norihito and Fukuda,  Satoshi and Usami,  Shin-ichi},
 issue = {9},
 journal = {JOURNAL OF HUMAN GENETICS},
 month = {Sep},
 note = {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)},
 pages = {587--592},
 title = {TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion},
 volume = {57},
 year = {2012}
}