• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

OTOF基因突变的基因型-表型相关性证据。

Evidence for genotype-phenotype correlation for OTOF mutations.

作者信息

Yildirim-Baylan Muzeyyen, Bademci Guney, Duman Duygu, Ozturkmen-Akay Hatice, Tokgoz-Yilmaz Suna, Tekin Mustafa

机构信息

Department of Otorhinolaryngology, Dicle University School of Medicine, Diyarbakir, Turkey.

Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States.

出版信息

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):950-3. doi: 10.1016/j.ijporl.2014.03.022. Epub 2014 Mar 28.

DOI:10.1016/j.ijporl.2014.03.022
PMID:24746455
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4066206/
Abstract

OBJECTIVES

The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations.

METHODS

Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests.

RESULTS

Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family.

CONCLUSIONS

The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.

摘要

目的

本研究旨在评估携带OTOF基因突变的受试者的听觉表型，以描述基因型与表型的相关性。

方法

纳入来自三个携带纯合OTOF突变家族的22名受影响成员。对9名受试者进行了耳镜检查、纯音听力测定、声反射鼓室图测试、听觉脑干反应测试和耳声发射测试等听力学评估。

结果

纯合c.4718T>C（p.Ile1573Thr）突变与一个家族中4名兄弟姐妹的听觉神经病/听觉不同步（AN/AD）表型及进行性感音神经性听力损失相关，而纯合c.4467dupC（p.I1490HfsX19）与另一个家族中4名亲属的重度至极重度感音神经性听力损失且无AN/AD相关。纯合c.1958delC（p.Pro653LeufsX13）突变与另一个家族中一名受影响者的中度感音神经性听力损失且无AN/AD相关。

结论

与不同OTOF突变相关的听力学表型似乎始终不同，提示存在基因型与表型的相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b092/4066206/bf22fc82dd4a/nihms-580462-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b092/4066206/879fb7cebd4a/nihms-580462-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b092/4066206/bf22fc82dd4a/nihms-580462-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b092/4066206/879fb7cebd4a/nihms-580462-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b092/4066206/bf22fc82dd4a/nihms-580462-f0002.jpg

相似文献

1
Evidence for genotype-phenotype correlation for OTOF mutations.OTOF基因突变的基因型-表型相关性证据。
Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):950-3. doi: 10.1016/j.ijporl.2014.03.022. Epub 2014 Mar 28.
2
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).携带 otoferlin 基因（OTOF）突变的患者中的听觉神经病。
Hum Mutat. 2003 Dec;22(6):451-6. doi: 10.1002/humu.10274.
3
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.在OTOF突变低患病率的韩国非综合征性听力损失人群中鉴定出一种新的OTOF剪接位点变体。
Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1030-5. doi: 10.1016/j.ijporl.2014.03.033. Epub 2014 Apr 24.
4
Familial auditory neuropathy.家族性听觉神经病
Laryngoscope. 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041.
5
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.中度感觉神经性听力损失是由影响 STRC 基因的各种类型突变引起的 DFNB16 的典型特征。
Eur Arch Otorhinolaryngol. 2019 Dec;276(12):3353-3358. doi: 10.1007/s00405-019-05649-5. Epub 2019 Sep 24.
6
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.OTOF基因C2结构域中的一种新型错义突变导致常染色体隐性遗传性听觉神经病。
Am J Med Genet A. 2005 Sep 15;138(1):6-10. doi: 10.1002/ajmg.a.30907.
7
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.日本 OTOF 相关听力损失队列的详细临床特征及基因型-表型相关性。
Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18.
8
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.台湾听觉神经病患者中OTOF基因的突变
Audiol Neurootol. 2010;15(6):364-74. doi: 10.1159/000293992. Epub 2010 Mar 11.
9
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.2,265 例日本感音神经性听力损失患者的大规模平行 DNA 测序的 OTOF 突变分析。
PLoS One. 2019 May 16;14(5):e0215932. doi: 10.1371/journal.pone.0215932. eCollection 2019.
10
Results of cochlear implantation in two children with mutations in the OTOF gene.两名携带OTOF基因突变儿童的人工耳蜗植入结果。
Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. doi: 10.1016/j.ijporl.2005.09.006. Epub 2005 Oct 13.

引用本文的文献

1
Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing.钙离子与 otoferlin 的 C2E 结构域结合是毛细胞胞吐作用及听力所必需的。
Protein Cell. 2024 Apr 1;15(4):305-312. doi: 10.1093/procel/pwad058.
2
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.耳声发射相关听力损失的自然病史、临床结局和基因型-表型关系：系统、定量文献综述。
Hum Genet. 2023 Oct;142(10):1429-1449. doi: 10.1007/s00439-023-02595-5. Epub 2023 Sep 7.
3
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

本文引用的文献

1
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.在日本严重至极重度隐性遗传性听力损失患者中进行 OTOF 突变筛查。
BMC Med Genet. 2013 Sep 22;14:95. doi: 10.1186/1471-2350-14-95.
2
Screening of OTOF mutations in Iran: a novel mutation and review.伊朗OTOF基因突变的筛查：一种新突变及综述
Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610-5. doi: 10.1016/j.ijporl.2012.07.030. Epub 2012 Aug 18.
3
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
日本 OTOF 相关听力损失队列的详细临床特征及基因型-表型相关性。
Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18.
4
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.OTOF 相关性听觉神经病谱系障碍的自然病史：一项多中心研究。
Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23.
5
Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.由于 otof 基因突变导致的耳蜗突触病可能导致稳定的轻度听力损失和言语感知的严重障碍。
Ear Hear. 2021;42(6):1627-1639. doi: 10.1097/AUD.0000000000001052.
6
The Many Faces of DFNB9: Relating Variants to Hearing Impairment.DFNB9 的多面性：将变异与听力障碍联系起来。
Genes (Basel). 2020 Nov 26;11(12):1411. doi: 10.3390/genes11121411.
7
An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.一种与听觉神经病谱系障碍相关的移码变异体。
Curr Genomics. 2018 Aug;19(5):370-374. doi: 10.2174/1389202919666171113152951.
8
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.联合使用基因方法可使一大群法国听力受损患者的诊断率达到 48%。
Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9.
9
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.OTOF 中的反复变异是导致沙特患者先天性非综合征性听力损失的重要因素。
Genet Med. 2018 Apr;20(5):536-544. doi: 10.1038/gim.2017.143. Epub 2017 Oct 19.
10
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants.耳铁蛋白Ile515Thr突变体中的毛细胞突触功能障碍、听觉疲劳和热敏感性。
EMBO J. 2016 Dec 1;35(23):2519-2535. doi: 10.15252/embj.201694564. Epub 2016 Oct 11.
在日本感音神经性聋患者中 OTOF 的常见突变及基因型-表型相关性。
Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1.
4
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.对38个基因进行筛查后发现，土耳其62%的非综合征性耳聋家庭存在突变。
Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):29-33. doi: 10.1089/gtmb.2010.0120. Epub 2010 Nov 30.
5
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!温度敏感型听神经病伴耳蝸蛋白基因突变：致聋热！
Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16.
6
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.台湾听觉神经病患者中OTOF基因的突变
Audiol Neurootol. 2010;15(6):364-74. doi: 10.1159/000293992. Epub 2010 Mar 11.
7
Five new OTOF gene mutations and auditory neuropathy.五个新的OTOF基因突变与听觉神经病
Int J Pediatr Otorhinolaryngol. 2010 May;74(5):494-8. doi: 10.1016/j.ijporl.2010.02.004. Epub 2010 Mar 7.
8
Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.耳聋患者耳声发射异常与 otoferlin 基因突变。
J Assoc Res Otolaryngol. 2009 Dec;10(4):545-56. doi: 10.1007/s10162-009-0181-z. Epub 2009 Jul 28.
9
Novel OTOF mutations in Brazilian patients with auditory neuropathy.巴西感音神经性聋患者中新发 otof 突变。
J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22.
10
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.巴基斯坦导致DFNB9型耳聋的耳铁传递蛋白基因（OTOF）突变的类型及频率
Clin Genet. 2009 Mar;75(3):237-43. doi: 10.1111/j.1399-0004.2008.01128.x.