今日聋病遗传咨询

王秋菊, 贺林. 今日聋病遗传咨询[J]. 临床耳鼻咽喉头颈外科杂志, 2024, 38(1): 1-7. doi: 10.13201/j.issn.2096-7993.2024.01.001
引用本文: 王秋菊, 贺林. 今日聋病遗传咨询[J]. 临床耳鼻咽喉头颈外科杂志, 2024, 38(1): 1-7. doi: 10.13201/j.issn.2096-7993.2024.01.001
WANG Qiuju, HE Lin. Genetic counseling for hearing loss today[J]. J Clin Otorhinolaryngol Head Neck Surg, 2024, 38(1): 1-7. doi: 10.13201/j.issn.2096-7993.2024.01.001
Citation: WANG Qiuju, HE Lin. Genetic counseling for hearing loss today[J]. J Clin Otorhinolaryngol Head Neck Surg, 2024, 38(1): 1-7. doi: 10.13201/j.issn.2096-7993.2024.01.001

今日聋病遗传咨询

  • 基金项目:
    国家自然科学基金面上项目(No:82271171、82271189、82171130);国家自然科学基金优秀青年基金项目(No:82222016);国家自然科学基金原创探索项目(No:82350005)
详细信息
    作者简介:

    王秋菊,主任医师,教授,博士/博士后导师,第十四届全国政协委员,解放军总医院耳鼻咽喉头颈外科医学部耳鼻咽喉内科主任,国家耳鼻咽喉疾病临床医学研究中心副主任;中国医促会常务理事,华夏医学科技奖理事,中国医促会耳内科学分会主委,中华医学会耳鼻咽喉头颈外科杂志编委会耳科组副组长,耳内科知名专家。创立我国我军耳内科学亚专科,临床擅长耳聋耳鸣的内科诊治、聋病遗传咨询、聋病三级预防体系建立;基础研究侧重于聋病分子遗传机制与临床转化应用。主持国自然重点、国家重点研发、军队重点、国防科技、973、863等课题30余项。建立了含量丰富的中国聋病资源库和临床听力学MCCA信息化系统;发现国际唯一被证实的Y连锁遗传性耳聋;率先提出新生儿听力基因联合筛查新模式并推广至全国;完成我国首例重度遗传性耳聋第三代试管婴儿,实现了一级预防瓶颈的突破。为军队科技领军人才、科技部重点研发计划、973项目首席科学家、“中国出生缺陷干预救助基金会科学技术奖”杰出贡献奖获得者、享受国务院政府特殊津贴等。获国家科技进步二等奖、中华医学科技进步一等奖、军队科技进步一等奖、中国出生缺陷救助基金会科技进步一等奖等,发表论文300余篇,专利30余项

    通讯作者: 王秋菊,E-mail:wqcr301@vip.sina.com
  • 中图分类号: R764.43

Genetic counseling for hearing loss today

More Information
  • 今日聋病遗传咨询来自对遗传性耳聋基因密码的破译,作为诊疗体系的重要组成部分在聋病防控中发挥重要作用。本文阐述了聋病遗传咨询的主要原则及内容、不同遗传模式下的咨询要点和在聋病三级预防中的应用;介绍了AI辅助聋病遗传咨询决策系统的应用前景,并对通过聋病遗传咨询实现遗传性耳聋的可防可诊可治进行了展望。今日聋病遗传咨询具有新时代特征,与科学技术进步密不可分,必将助力精准基因干预!
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  • 图 1  常染色体显性遗传DFNA2A耳聋家系(致病基因 KCNQ4 )

    图 2  常染色体显性遗传DFNA4A耳聋家系(致病基因 MYH14 )

    图 3  常染色体隐性遗传DFNB3耳聋家系(致病基因 MYO15A )

    图 4  常染色体隐性遗传DFNB4耳聋家系(致病基因 SLC26A4 )

    图 5  X连锁隐性遗传AUNX1耳聋家系(致病基因 AIFM1 )

    图 6  Y-连锁遗传DFNY1耳聋家系(作者于2000年首次发现并报道的新遗传模式)

    图 7  线粒体遗传耳聋家系(致病基因MT-RNR m.1555A>G同质突变)

  • [1]

    Anderson VE. Sheldon C. Reed, Ph. D. (November 7, 1910-February 1, 2003): genetic counseling, behavioral genetics[J]. Am J Hum Genet, 2003, 73(1): 1-4.

    [2]

    王秋菊, 杨仕明, 赵立东, 等. 遗传性听力损失及其综合征[M]. 3版. 北京: 人民卫生出版社: 2021.

    [3]

    贺林. 今日遗传咨询[M]. 北京: 人民卫生出版社: 2019.

    [4]

    贺林. 解码生命: 从多视角看生命[M]. 北京: 科学出版社: 2020.

    [5]

    马端. 破解疾病的遗传密码[M]. 上海科学技术出版社: 2018.

    [6]

    Van Camp G SR. Hereditary Hearing Loss Homepage. https://hereditaryhearingloss.org.

    [7]

    关静, 贺林, 杨仕明, 等. 聋病遗传咨询专家共识[J]. 中华耳科学杂志, 2022, 20(2): 222-226. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHER202202011.htm

    [8]

    Wang Q, Xue Y, Zhang Y, et al. Genetic basis of Y-linked hearing impairment[J]. Am J Hum Genet, 2013, 92(2): 301-306. doi: 10.1016/j.ajhg.2012.12.015

    [9]

    Cree LM, Samuels DC, de Sousa Lopes SC, et al. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes[J]. Nat Genet, 2008, 40(2): 249-254. doi: 10.1038/ng.2007.63

    [10]

    关静, 李进, 吴萧男, 等. 携带线粒体DNA致病突变家庭的聋病遗传咨询特征分析[J]. 中华耳鼻咽喉头颈外科杂志, 2023, 58(11): 1077-1085.

    [11]

    王秋菊, 赵亚丽, 兰兰, 等. 新生儿聋病基因筛查实施方案与策略研究[J]. 中华耳鼻咽喉头颈外科杂志, 2007, 42(11): 809-813. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHEB200711004.htm

    [12]

    Wang Q, Xiang J, Sun J, et al. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China[J]. Genet Med, 2019, 21(10): 2231-2238. doi: 10.1038/s41436-019-0481-6

    [13]

    Wang QJ, Zhao YL, Rao SQ, et al. Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14, 913 Chinese newborns[J]. Int J Pediatr Otorhinolaryngol, 2011, 75(4): 535-542. doi: 10.1016/j.ijporl.2011.01.016

    [14]

    Zhang J, Wang P, Han B, et al. Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58, 397 neonates in Tianjin, China[J]. Int J Pediatr Otorhinolaryngol, 2013, 77(12): 1929-1935. doi: 10.1016/j.ijporl.2013.08.038

    [15]

    Guo L, Xiang J, Sun L, et al. Concurrent hearing and genetic screening in a general newborn population[J]. Hum Genet, 2020, 139(4): 521-530. doi: 10.1007/s00439-020-02118-6

    [16]

    Dai P, Huang LH, Wang GJ, et al. Concurrent Hearing and Genetic Screening of 180, 469 Neonates with Follow-up in Beijing, China[J]. Am J Hum Genet, 2019, 105(4): 803-812. doi: 10.1016/j.ajhg.2019.09.003

    [17]

    张娇, 王大勇, 韩冰, 等. 新生儿听力与基因联合筛查的系统评价和Meta分析[J]. 中华耳科学杂志, 2020, 18(2): 216-224. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHER202002001.htm

    [18]

    Howell RR. We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants[J]. Genet Med, 2019, 21(11): 2439-2441. doi: 10.1038/s41436-019-0638-3

    [19]

    Shearer AE, Shen J, Amr S, et al. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children[J]. Genet Med, 2019, 21(11): 2614-2630. doi: 10.1038/s41436-019-0563-5

    [20]

    Guan J, Li J, Chen G, et al. Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways[J]. Eur J Med Genet, 2021, 64(10): 104311. doi: 10.1016/j.ejmg.2021.104311

    [21]

    Wang H, Gao Y, Guan J, et al. Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c. 235delC Homozygous Mutation[J]. Front Cell Dev Biol, 2021, 9: 647240. doi: 10.3389/fcell.2021.647240

    [22]

    Tang X, Liu L, Liang S, et al. Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China[J]. Front Pediatr, 2021, 9: 734300. doi: 10.3389/fped.2021.734300

    [23]

    Sheffield AM, Smith RJH. The Epidemiology of Deafness[J]. Cold Spring Harb Perspect Med, 2019, 9(9): a033258. doi: 10.1101/cshperspect.a033258

    [24]

    庄彩霞. 全国多中心早孕期11种单基因病携带者筛查[D]. 北京协和医学院, 2019.

    [25]

    王秋菊, 关静. 耳聋的临床遗传咨询——走进基因组新医学时代[J]. 中国听力语言康复科学杂志, 2017, 15(4): 241-246. https://www.cnki.com.cn/Article/CJFDTOTAL-TLKF201704001.htm

    [26]

    Patel MJ, DiStefano MT, Oza AM, et al. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss[J]. Genet Med, 2021, 23(11): 2208-2212. doi: 10.1038/s41436-021-01254-2

    [27]

    王秋菊, 陈晓巍, 翟晓梅, 等. 孕期耳聋基因筛查专家共识[J]. 中华耳科学杂志, 2022, 20(2): 217-221. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHER202202010.htm

    [28]

    高畅, 杨蕊, 王颖, 等. 植入前遗传学检测技术的现状及新进展[J]. 中华生殖与避孕杂志, 2019, 39(1): 67-74.

    [29]

    Xiong W, Wang D, Gao Y, et al. Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment[J]. Sci China Life Sci, 2015, 58(9): 829-838. doi: 10.1007/s11427-015-4936-y

    [30]

    Handyside AH, Kontogianni EH, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification[J]. Nature, 1990, 344(6268): 768-770. doi: 10.1038/344768a0

    [31]

    Wang J, Lu BM, Li R, et al. Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary[J]. J Assist Reprod Genet, 2019, 36(12): 2515-2523. doi: 10.1007/s10815-019-01595-7

    [32]

    Handyside AH, Lesko JG, Tarín JJ, et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis[J]. N Engl J Med, 1992, 327(13): 905-909. doi: 10.1056/NEJM199209243271301

    [33]

    Esteva A, Robicquet A, Ramsundar B, et al. A guide to deep learning in healthcare[J]. Nat Med, 2019, 25(1): 24-29. doi: 10.1038/s41591-018-0316-z

    [34]

    Liang H, Tsui BY, Ni H, et al. Evaluation and accurate diagnoses of pediatric diseases using artificial intelligence[J]. Nat Med, 2019, 25(3): 433-438. doi: 10.1038/s41591-018-0335-9

    [35]

    Retson TA, Besser AH, Sall S, et al. Machine Learning and Deep Neural Networks in Thoracic and Cardiovascular Imaging[J]. J Thorac Imaging, 2019, 34(3): 192-201. doi: 10.1097/RTI.0000000000000385

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出版历程
收稿日期:  2023-12-10
刊出日期:  2024-01-03

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