小儿听力损失的遗传学：功能视角
Genetics of pediatric hearing loss: A functional perspective.
作者信息
Khela Harmon, Kenna Margaret A
机构信息
Summer Scholars Program, Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
Department of Otolaryngology and Communication Enhancement Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
出版信息
Laryngoscope Investig Otolaryngol. 2020 May 2;5(3):511-519. doi: 10.1002/lio2.390. eCollection 2020 Jun.
Abstract
OBJECTIVES
This article reviews the current role of genetics in pediatric hearing loss (HL).
METHODS
A review of the current literature regarding the genetic basis of HL in children was performed.
RESULTS
To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syndromic causes that have HL as part of the clinical phenotype.
CONCLUSIONS
Identifying HL genes coupled with clinical characteristics ("genotype-phenotype") yields a more accurate diagnosis and prognosis. Although the complexity of the auditory apparatus presents challenges, gene therapy is emerging and may be a viable management option in the future.
摘要
目的
本文综述了遗传学在儿童听力损失（HL）中的当前作用。
方法
对有关儿童HL遗传基础的当前文献进行了综述。
结果
迄今为止，已有119个非综合征性基因与HL相关。还有数百种综合征性病因，其临床表型包括HL。
结论
识别HL基因并结合临床特征（“基因型-表型”）可实现更准确的诊断和预后评估。尽管听觉器官的复杂性带来了挑战，但基因治疗正在兴起，未来可能是一种可行的治疗选择。
相似文献
1
Genetics of pediatric hearing loss: A functional perspective.小儿听力损失的遗传学：功能视角
Laryngoscope Investig Otolaryngol. 2020 May 2;5(3):511-519. doi: 10.1002/lio2.390. eCollection 2020 Jun.
2
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.下一代测序有助于遗传诊断，并改善临床实践中听力损失患者的管理。
Int J Pediatr Otorhinolaryngol. 2022 Oct;161:111258. doi: 10.1016/j.ijporl.2022.111258. Epub 2022 Jul 31.
3
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss.外显子组测序拓宽了儿科听力损失的遗传诊断范围。
Laryngoscope. 2023 Sep;133(9):2417-2424. doi: 10.1002/lary.30507. Epub 2022 Dec 14.
4
Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.儿童 STRC 相关常染色体隐性遗传性听力损失的听力学表型和进展。
Laryngoscope. 2021 Dec;131(12):E2897-E2903. doi: 10.1002/lary.29680. Epub 2021 Jun 10.
5
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.海湾合作委员会国家遗传性听力损失的遗传病因
Hum Genet. 2022 Apr;141(3-4):595-605. doi: 10.1007/s00439-021-02323-x. Epub 2021 Aug 2.
6
Genotype and Phenotype Analyses of a Novel Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.与 DFNA6/14/38 相关的新型变体 (c.2512C>T p.(Pro838Ser)) 的基因型和表型分析。
Genes (Basel). 2023 Feb 10;14(2):457. doi: 10.3390/genes14020457.
7
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.外显子组测序在疑似孤立性听力损失患儿中的获益。
Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277.
8
The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.GJB2基因中存在争议的p.Met34Thr变异：两名同胞，一种基因型，两种表型。
Int J Pediatr Otorhinolaryngol. 2015 Aug;79(8):1316-9. doi: 10.1016/j.ijporl.2015.05.041. Epub 2015 Jun 9.
9
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.综合征性或非综合征性听力损失患者外显子组测序的诊断结果。
PLoS One. 2018 Jan 2;13(1):e0188578. doi: 10.1371/journal.pone.0188578. eCollection 2018.
10
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.CABP2基因中的一种新型致病变异导致一个伊朗近亲家庭出现严重的非综合征性听力损失。
Audiol Neurootol. 2019;24(5):258-263. doi: 10.1159/000502251. Epub 2019 Oct 29.
引用本文的文献
1
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.使用靶向基因组测序对新生儿听力障碍进行筛查：一项大型试点队列研究。
Clin Exp Otorhinolaryngol. 2025 May;18(2):152-161. doi: 10.21053/ceo.2024.00275. Epub 2025 Feb 14.
2
Building inner ears: recent advances and future challenges for in vitro organoid systems.体外类器官系统构建内耳：最新进展与未来挑战
Cell Death Differ. 2021 Jan;28(1):24-34. doi: 10.1038/s41418-020-00678-8. Epub 2020 Dec 14.
本文引用的文献
1
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.全面新生儿听力筛查提案，以改善聋儿和重听儿童的发现。
Genet Med. 2019 Nov;21(11):2614-2630. doi: 10.1038/s41436-019-0563-5. Epub 2019 Jun 7.
2
Genetic Hearing Loss and Gene Therapy.遗传性听力损失与基因治疗
Genomics Inform. 2018 Dec;16(4):e20. doi: 10.5808/GI.2018.16.4.e20. Epub 2018 Dec 28.
3
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.KCNE1 缺乏症在 Jervell 和 Lange-Nielsen 综合征及 Romano-Ward 综合征中的突变和表型谱。
Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12.
4
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.区分变异致病性与基因诊断：如何判断一个变异是否导致某种疾病。
JAMA. 2018 Nov 13;320(18):1929-1930. doi: 10.1001/jama.2018.14900.
5
Ethical Issues in Contemporary Clinical Genetics.当代临床遗传学中的伦理问题。
Mayo Clin Proc Innov Qual Outcomes. 2018 May 8;2(2):81-90. doi: 10.1016/j.mayocpiqo.2018.03.005. eCollection 2018 Jun.
6
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.全外显子组测序在成人听力损失中揭示了已知耳聋相关基因中大量预测致病性变异，并鉴定了新的候选基因。
BMC Med Genomics. 2018 Sep 4;11(1):77. doi: 10.1186/s12920-018-0395-1.
7
TMC1 Forms the Pore of Mechanosensory Transduction Channels in Vertebrate Inner Ear Hair Cells.TMC1 构成脊椎动物内耳毛细胞机械敏感转导通道的孔道。
Neuron. 2018 Aug 22;99(4):736-753.e6. doi: 10.1016/j.neuron.2018.07.033.
8
Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.与氨基糖苷类药物所致耳毒性相关的线粒体DNA突变
J Otol. 2017 Mar;12(1):1-8. doi: 10.1016/j.joto.2017.02.001. Epub 2017 Feb 11.
9
Modeling human early otic sensory cell development with induced pluripotent stem cells.利用诱导多能干细胞建立人类早期耳感觉细胞发育模型。
PLoS One. 2018 Jun 14;13(6):e0198954. doi: 10.1371/journal.pone.0198954. eCollection 2018.
10
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.COCH 基因中的双等位基因失活变异导致常染色体隐性遗传性先天性耳聋。
Eur J Hum Genet. 2018 Apr;26(4):587-591. doi: 10.1038/s41431-017-0066-2. Epub 2018 Feb 15.
Zotero 插件