TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
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Abstract
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
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- JOURNAL OF HUMAN GENETICS
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JOURNAL OF HUMAN GENETICS 57 (9), 587-592, 2012-09
NATURE PUBLISHING GROUP
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Keywords
Details 詳細情報について
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- CRID
- 1050845763848563840
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- NII Article ID
- 10031056980
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- NII Book ID
- AA11206160
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- ISSN
- 14345161
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- HANDLE
- 10091/16850
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- NDL BIB ID
- 023949827
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- Text Lang
- en
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- Article Type
- journal article
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- Data Source
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- IRDB
- NDL
- CiNii Articles