TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
| Autor: | Satoshi Iwasaki, Shin-ichi Usami, Yutaka Takumi, Shigenari Hashimoto, Satoshi Fukuda, Norihito Takeichi, Hideaki Moteki, Shin-ya Nishio |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male animal structures Adolescent genotype-phenotype correlations mid-frequency hearing loss Hearing loss Tectorial membrane Biology GPI-Linked Proteins medicine.disease_cause Cell Line TECTA Gene Young Adult Asian People Japan Gene Order Genetics medicine Animals Humans TECTA Missense mutation Child Hearing Loss Zona Pellucida Genetics (clinical) Extracellular Matrix Proteins Mutation zona pellucida domain Mid-frequency hearing loss Wild type Exons Middle Aged Pedigree Protein Structure Tertiary autosomal dominant hearing loss medicine.anatomical_structure Child Preschool Female medicine.symptom |
| Zdroj: | Journal of Human Genetics. 57:587-592 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1038/jhg.2012.73 |
| Popis: | 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) |
| Databáze: | OpenAIRE |
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