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The genetic basis of deafness in populations of African descent

Journal of Genetics and Genomics 2017年第6期44卷 285-294页

作者： Jason R.Rudman Rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Otorhinolaryngology Steve Biko Academic HospitalUniversity of Pretoria Department of Otolaryngology Xiangya HospitalCentral South University Dr. John T.Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine John P.Hussman Institute for Human Genomics University of Miami Miller School of Medicine

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

关键词： Genetic Hearing loss deafness African

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Long-term follow-up of auditory performance and speech perception and effects of age on cochlear implantation in children with pre-lingual deafness

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Chinese Medical Journal 2019年第16期132卷 1925-1934页

作者： Jing Lyu Ying Kong Tian-Qiu Xu Rui-Juan Dong Bei-Er Qi Shuo Wang Yong-Xin Li Hai-Hong Liu Xue-Qing Chen Department of Otolaryngology Head and Neck SurgeryBeijing Tongren HospitalCapital Medical UniversityBeijing Institute of OtolaryngologyBeijing 100005China Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck SurgeryDepartment of OtolaryngologyHead and Neck SurgeryBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China.

Background: The development of auditory and speech perception ability of children with hearing loss is affected by many factors after they undergo cochlear implantation (CI). Age at CI (CI age) appears to play an important role among these factors. This study aimed to evaluate the development of auditory and speech perception ability and explore the impact of CI age on children with pre-lingual deafness present before 3 years of age. Methods: Two hundred and seventy-eight children with pre-lingual deafness (176 boys and 102 girls) were included in this study, and the CI age ranged from 6 to 36 months (mean age, 19 months). Categorical auditory performance (CAP) was assessed to evaluate auditory ability, and the speech intelligibility rating was used to evaluate speech intelligibility. The evaluations were performed before CI and 1, 3, 6, 12, 18, 24, 36, 48, and 60 months after CI. Results: The auditory ability of the pre-lingually hearing-impaired children showed the fastest development within 6 months after CI (k = 0.524, t = 30.992, P 0.05). The optimal cutoff age for CI was 15 months. Conclusions: Within 5 years after CI, the auditory and speech ability of young hearing-impaired children continuously improved, although speech development lagged behind that of hearing. An earlier CI age is recommended;the optimal cutoff age for CI is at 15 months.

关键词： Categorical auditory performance Speech intelligibility rating Cochlear implantation Children Pre-lingual deafness Age at cochlear implantation

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deafness

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当代外语研究 1999年第1期 17-20页

作者：周浅

本文是Blindness一文的姊妹篇,专谈耳疾。失聪者在美国的人数之巨,也让我们吃惊。失聪一般可分三类,但是与眼疾所不同的是:…many cases canbe prevented.在对导致失聪的原因作分析时,有一点给读者留下深刻印象:…old men in quiet Afri... 详细信息

本文是Blindness一文的姊妹篇,专谈耳疾。失聪者在美国的人数之巨,也让我们吃惊。失聪一般可分三类,但是与眼疾所不同的是:…many cases canbe prevented.在对导致失聪的原因作分析时,有一点给读者留下深刻印象:…old men in quiet African villages have much better hearing than young people inAmerica.由此可窥见噪声对听力所造成的危害。文章对American Sign Language(美国手势语)/the hearing aid(助听器)的演变详有说明,信息丰富。】

关键词：助听器 deafness

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Measurement of Non-Steady Noise and Assessment of Occupational Hearing Loss Based on the Temporal Structure of Noise

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China CDC weekly 2023年第3期5卷 63-67页

作者： Meibian Zhang Anke Zeng Jiarui Xin Xiangjing Gao Wei Qiu Xin Sun National Institute of Occupational Health and Poison Control Chinese Center for Disease Control and PreventionBeijing MunicipalityChina Occupational Health and Radiation Protection Institute Zhejiang Provincial Center for Disease Control and PreventionHangzhou CityZhejiang ProvinceChina Zhejiang Lab Hangzhou CityZhejiang ProvinceChina

Noise-induced hearing loss(NIHL)has become a global public health problem,and the economic burden of hearing loss caused by noise exposure accounts for 19.6%of the economic burden of all risk factors in the workplace(1).The prevalence of occupational NIHL was estimated to be 10%in relevant occupational population in developed countries and 17%–39%(e.g.,textile and petrochemical industries),and 53%–67%(e.g.,cement and automobile industries)in developing countries in Asia,respectively.(2).In China,occupational noiseinduced deafness has become the second primary occupational disease after pneumoconiosis,with the number of reported cases increasing at an average annual rate of 18.68%from 2010 to 2019(3–4).The prevalence of occupational NIHL in the Chinese occupational population was 21.3%,of which 30.2%was related to high-frequency NIHL(an early sign of NIHL)(2).

关键词： occupational prevalence deafness

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AAV-ie-K558R mediated cochlear gene therapy and hair cell regeneration

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Signal Transduction and Targeted Therapy 2022年第5期7卷 1764-1772页

作者： Yong Tao Xiaoyi Liu Liu Yang Cenfeng Chu Fangzhi Tan Zehua Yu Junzi Ke Xiang Li Xiaofei Zheng Xingle Zhao Jieyu Qi Chao-Po Lin Renjie Chai Guisheng Zhong Hao Wu Department of Otolaryngology-Head and Neck Surgery Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200011PR China Ear Institute Shanghai Jiao Tong University School of MedicineShanghai 200011PR China Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases Shanghai 200011PR China iHuman Institute ShanghaiTech UniversityShanghai 201210PR China School of Life Science and Technology ShanghaiTech UniversityShanghai 201210PR China State Key Laboratory of Bioelectronics Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyJiangsu Province High-Tech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjing 210096PR China Co-Innovation Center of Neuroregeneration Nantong UniversityNantong 226001PR China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijingPR China Beijing Key Laboratory of Neural Regeneration and Repair Capital Medical University100069 BeijingPR China

The cochlea consists of multiple types of cells,including hair cells,supporting cells and spiral ganglion neurons,and is responsible for converting mechanical forces into electric signals that enable hearing.Genetic and environmental factors can result in dysfunctions of cochlear and auditory systems.In recent years,gene therapy has emerged as a promising treatment in animal deafness models.One major challenge of the gene therapy for deafness is to effectively deliver genes to specific cells of cochleae.

关键词： cochlear auditory deafness

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HUMAN MITOCHONDRIAL tRNA MUTATIONS IN MATERNALLY INHERITED deafness

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Journal of Otology 2013年第1期8卷 44-50页

作者： ZHENG Jing GONG Sha-sha TANG Xiao-wen ZHU Yi GUAN Min-xin Department of Genetics College of Life SciencesZhejiang University Attardi Institute of Mitochondrial Biomedicine Wenzhou Medical University

Mutations in mitochondrial tRNA genes have been shown to be associated with maternally inherited syn-dromic and non-syndromic deafness. Among those, mutations such as tRNALeu(UUR) 3243A>G associated with syndromic deafness are often present in heteroplasmy, and the non-syndromic deafness-associated tRNA mu-tations including tRNASer(UCN) 7445A>G are often in homoplasmy or in high levels of heteroplasmy. These tRNA mutations are the primary factors underlying the development of hearing loss. However, other tRNA mutations such as tRNAThr 15927G>A and tRNASer(UCN) 7444G>A are insufficient to produce a deafness phe-notype, but always act in synergy with the primary mitochondrial DNA mutations, and can modulate their phenotypic manifestation. These tRNA mutations may alter the structure and function of the corresponding mitochondrial tRNAs and cause failures in tRNAs metabolism. Thereby, the impairment of mitochondrial protein synthesis and subsequent defects in respiration caused by these tRNA mutations, results in mitochon-drial dysfunctions and eventually leads to the development of hearing loss. Here, we summarized the deaf-ness-associated mitochondrial tRNA mutations and discussed the pathophysiology of these mitochondrial tRNA mutations, and we hope these data will provide a foundation for the early diagnosis, management, and treatment of maternally inherited deafness.

关键词： deafness mitochondria tRNA primary mutation secondary mutation maternally inherited

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毫米波全双工WiGig网络中隐藏节点和deafness问题研究与MAC协议设计

毫米波全双工WiGig网络中隐藏节点和Deafness问题研究与MAC协议设...

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作者：吴占厦门大学

学位级别：硕士

高速率、大容量的通信业务需求迫使无线通信向60GHz非授权毫米波频段扩展,为此,电气电子工程师协会(Institute of Electrical and Electronics Engineers,IEEE)推出了 IEEE 802.11ad标准以适应毫米波频段的物理层和媒体接入控制(Media A... 详细信息

高速率、大容量的通信业务需求迫使无线通信向60GHz非授权毫米波频段扩展,为此,电气电子工程师协会(Institute of Electrical and Electronics Engineers,IEEE)推出了 IEEE 802.11ad标准以适应毫米波频段的物理层和媒体接入控制(Media Access Control,MAC)层的变化。为了克服毫米波频段严重的路径损耗,通信节点不再使用全向天线进行数据传输,通常使用电子天线阵列提供窄的定向波束,这一物理层的改变导致存在于MAC层的问题也发生质的改变,如隐藏节点问题;此外,定向传输还会引发严重的deafness问题。隐藏节点问题和deafness问题会严重制约网络吞吐量、时延和公平性等,必须妥善解决。带内全双工技术因为能够支持数据同频同时的传输,在理论上,可以实现频谱效率的倍增。所以,本文将带内全双工技术引用到WiGig网络中,并在MAC层做了相关的适配研究。在MAC层,现有的标准协议都是针对半双工设计的,完成全双工链路的调度需要突破半双工模式下控制帧的局限性,还要解决在全双工链路中的隐藏节点和deafness问题,但是目前并没有研究者对不同双工模式下,隐藏节点和deafness问题轻重程度给出分析,因此本文做了以下探索和贡献:通过与传统 IEEE 802.11 分布式协调功能(Distributed Coordination Function,DCF)无线网络中的隐藏节点问题对比,对毫米波WiGig网络中的隐藏节点问题进行重新定义。并基于WiGig网络对现有的低频域全双工MAC协议、低频域半双工方向性MAC协议和毫米波半双工方向性MAC协议局限性给出分析。为了衡量在毫米波WiGig网络引入全双工以后对隐藏节点和deafness问题的影响,本文联合Frills毫米波信道模型、定向天线增益和不同双工模式下链路成功解码的条件,对不同双工模式下的WiGig网络进行数学建模,对比分析了不同双工模式下发生上述两类问题的概率关系。基于此,本文有针对性地提出了 BT-DFMAC协议,该协议对RTS/CTS控制帧做了修改,通过向控制帧中添加双工模式域,使节点能够自适应调度两节点、三节点全双工链路。同时借助低频忙音信号辅助通信节点多信道侦听,有效地解决了 WiGig网络中的隐藏节点和deafness问题。最后,通过离散事件调度机制真实模拟BT-DFMAC协议的调度过程,仿真结果表明,BT-DFMAC能够大幅度降低隐藏节点造成的网络碰撞率。相比IEEE 802.11ad标准,BT-DFMAC协议在不同节点密度下至少能带来0.58倍的吞吐量提升;在公平性方面,也有着更优的表现。

关键词：全双工 MAC 隐藏节点 deafness 毫米波 WiGig网络

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Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice

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Journal of Genetics and Genomics 2023年第2期50卷 122-125页

作者： Cheng Cheng Jieyu Qi Liyan Zhang He Li Jie Lu Siyu Li Zhong Zhang Yue Qiu Chen Zhang Lulu Jiang Chaorong Yu Xia Gao Phillip I.Bird Renjie Chai Department of Otolaryngology Head and Neck Surgery Affiliated Drum Tower Hospital of Nanjing University Medical SchoolJiangsu Provincial Key Medical Discipline(Laboratory)No.321 Zhongshan RoadNanjingJiangsu 210008China Research Institute of Otolaryngology No.321 Zhongshan RoadNanjingJiangsu 210008China State Key Laboratory of Bioelectronics School of Life Sciences and TechnologyJiangsu Province High-Tech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjingJiangsu 210096China Department of Otolaryngology-Head and Neck Surgery First Affiliated Hospital of Wenzhou Medical UniversityWenzhouZhejiang 325015China Northern Jiangsu People’s Hospital Affiliated to Yangzhou University YangzhouJiangsu 225009China Beijing Key Laboratory of Neural Regeneration and Repair Capital Medical UniversityBeijing 100069China Suzhou Otovia Therapeutics Inc. SuzhouJiangsu 215021China Department of Biochemistry and Molecular Biology Monash Biomedicine Discovery InstituteMonash UniversityClaytonVictoria 3800Australia State Key Laboratory of Bioelectronics Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyAdvanced Institute for Life and HealthJiangsu Province High-Tech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjingJiangsu 210009China Co-Innovation Center of Neuroregeneration Nantong UniversityNantongJiangsu 226001China Department of Otolaryngology Head and Neck Surgery Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijing 100086China

Hearing impairment constitutes a global public health problem with severe social,political,and economic consequences,and the World Health Organization estimates that about 466 million individuals globally have some degree of hearing loss.Genetic factors account for about half of all deafness cases.Currently,more than 100 genes are known to be involved in hearing loss,but the underlying molecular mechanisms behind these deafness genes have not been fully characterized.The main clinical treatment for deafness is hearing aids and cochlear implants,but their efficacy depends heavily on the quantity and quality of residual hair cells(HCs)and spiral ganglion neurons and has only limited auditory effects.

关键词： deafness auditory hearing

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A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

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Chinese Medical Journal 2022年第21期135卷 2631-2633页

作者： Beiping Zeng Hongen Xu Yongan Tian Qianyu Lin Haifeng Feng Zhifeng Zhang Siqi Li Wenxue Tang BGI College and Henan Institute of Medical and Pharmaceutical Sciences Zhengzhou UniversityZhengzhouHenan 450052China Precision Medicine Center Academy of Medical ScienceZhengzhou UniversityZhengzhouHenan 450052China The Second Affiliated Hospital of Zhengzhou University ZhengzhouHenan 450014China Department of Otorhinolaryngology Head and Neck SurgeryThe First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan 450052China The Third People’s Hospital of Zhengzhou ZhengzhouHenan 450000China Department of Physiology and Neurobiology Academy of Medical ScienceZhengzhou UniversityZhengzhouHenan 450001China

To the Editor:Hearing loss is the most common sensory disorder in humans.There is one case of congenital deafness among every 1000 newborns,and in 50%of cases,the deafness is hereditary.deafness exhibits high genetic heterogeneity.To date,over 110 non-syndromic deafness genes have been identified(https://***/).Lots of those genes can cause both autosomaldominant hearing loss(ADNSHL)and autosomal-recessive non-syndromic hearing loss(ARNSHL)andTMC1(encoding the transmembrane channel-like 1)is one of them.TMC1(OMIM:606706)is a member of the TMC family located at 9q21.13.The protein contains 760 amino acids and has six transmembrane regions.TMC1 is expressed in the inner and outer hair cells of the cochlea.A TMC1 mutation was first shown to cause deafness in 2002.[1]The prevalence of TMC1 variants ranged from 3.4%(19/557)among Pakistani ARNSHL families to 8.1%(7/86)in Turkish families.To date,around 20 hearing loss families associated withTMC1 variants have been reported in China.

关键词： deafness congenital hearing

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TREATMENT OF 100 CASES OF NERVE deafness WITH INJECTIO RADIX SALVIAE MILTIORRHIZAE

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Journal of Traditional Chinese Medicine 1992年第4期12卷 256-258页

作者：胡元香葛英华张亚力刘建华李洵刘巧平 Dongzhimen Hospital of Beijing College of TCM Beijing 100700

100 cases of nerve deafness were treated with Injectio Radix Salviae Miltiorrhizae(丹参注射注)by i.***.drip,and additional drugs that promoted blood circulation were used accordingto symptom differentiation.Results were... 详细信息

关键词： deafness hearing Radix cured bilateral stasis promoted 行气活血 Poria 肾阴虚

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