期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 20, 期 18, 页码 -出版社
MDPI
DOI: 10.3390/ijms20184579
关键词
tight junction; Claudin-14; CLDN14; hearing loss; vestibular function; cochlear implantation
资金
- Health and Labor Sciences Research Grant for Research on Rare and Intractable diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan [H29-Nanchitou(Nan)-Ippan-031]
- Japan Agency for Medical Research and Development (AMED) [16kk0205010h001, 18ek0109363h0001]
- Ministry of Education, Science and Culture of Japan [15H02565]
- Grants-in-Aid for Scientific Research [15H02565] Funding Source: KAKEN
Tight junctions are cellular junctions that play a major role in the epithelial barrier function. In the inner ear, claudins, occludin, tricellulin, and angulins form the bicellular or tricellular binding of membrane proteins. In these, one type of claudin gene, CLDN14, was reported to be responsible for human hereditary hearing loss, DFNB29. Until now, nine pathogenic variants have been reported, and most phenotypic features remain unclear. In the present study, genetic screening for 68 previously reported deafness causative genes was carried out to identify CLDN14 variants in a large series of Japanese hearing loss patients, and to clarify the prevalence and clinical characteristics of DFNB29 in the Japanese population. One patient had a homozygous novel variant (c.241C>T: p.Arg81Cys) (0.04%: 1/2549). The patient showed progressive bilateral hearing loss, with post-lingual onset. Pure-tone audiograms indicated a high-frequency hearing loss type, and the deterioration gradually spread to other frequencies. The patient showed normal vestibular function. Cochlear implantation improved the patient's sound field threshold levels, but not speech discrimination scores. This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据