• 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

一个伊朗家系常染色体显性非综合征型听力损失与 基因的无义突变相关。

An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the Gene.

机构信息

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Associate Professor of Otolaryngology, Academy of Medical Sciences of IR Iran, Tehran, Iran.

出版信息

Arch Iran Med. 2023 Mar 1;26(3):176-180. doi: 10.34172/aim.2023.27.

DOI:10.34172/aim.2023.27
PMID:37543941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10685723/
Abstract

Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C>T (p.Arg1204Ter) is the first report of the gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran.

摘要

由于显著的临床和遗传异质性，非综合征性听力损失（NSHL）的遗传分析一直具有挑战性。如今，先进的下一代测序（NGS）技术，如外显子组测序（ES），极大地提高了对异质性孟德尔疾病中基因识别的功效。在这里，我们展示了 ES 的实用性，并重新评估了表型数据，以确定先前无法解释的伊朗一个扩展家族中进行性中度至重度 NSHL 的候选因果变异。使用这种方法，我们在这个大家庭中发现了一个已知的杂合无义变异，位于 基因的外显子 26 中（MIM：602121），这导致了“常染色体显性 1 型耳聋，伴有或不伴有血小板减少症；DFNA1”（MIM：124900），而没有致病性变异，也没有 OtoSCOPE 阴性结果。据我们所知，这个无义变异（NM_001079812.3）：c.3610C>T（p.Arg1204Ter）是伊朗首例报道的常染色体显性非综合征性听力损失（ADNSHL） 基因变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/2e61402053b2/aim-26-176-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/855357e50789/aim-26-176-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/0780574f869f/aim-26-176-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/67d56905315a/aim-26-176-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/2e61402053b2/aim-26-176-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/855357e50789/aim-26-176-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/0780574f869f/aim-26-176-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/67d56905315a/aim-26-176-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebe3/10685723/2e61402053b2/aim-26-176-g004.jpg

相似文献

1
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the Gene.一个伊朗家系常染色体显性非综合征型听力损失与 基因的无义突变相关。
Arch Iran Med. 2023 Mar 1;26(3):176-180. doi: 10.34172/aim.2023.27.
2
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).DIAPH1相关常染色体显性遗传性听力损失（DFNA1）临床和分子表型的扩展
Clin Genet. 2017 Jun;91(6):892-901. doi: 10.1111/cge.12915. Epub 2016 Dec 16.
3
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.伊朗非综合征性听力损失的流行病学、病因学及基因变异：一项系统综述与荟萃分析
Int J Pediatr Otorhinolaryngol. 2023 May;168:111512. doi: 10.1016/j.ijporl.2023.111512. Epub 2023 Mar 29.
4
Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.通过靶向外显子组测序鉴定一个伊朗近亲家庭中新型MYO15A变异体及其临床意义
Audiol Neurootol. 2019;24(1):25-31. doi: 10.1159/000498843. Epub 2019 Apr 3.
5
A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl.一名沙特儿科女孩中导致巨血小板减少症和非综合征性听力损失的DIAPH1基因新变异体
Cureus. 2024 May 25;16(5):e61044. doi: 10.7759/cureus.61044. eCollection 2024 May.
6
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.一个中国家系中，透明同系物1（DIAPH1）的一种新变异体导致听觉神经病。
Int J Pediatr Otorhinolaryngol. 2020 Jun;133:109947. doi: 10.1016/j.ijporl.2020.109947. Epub 2020 Feb 13.
7
Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred.下一代测序揭示了TMC1基因中的一种新型致病突变，该突变在一个伊朗家族中导致常染色体隐性非综合征性听力损失。
Int J Pediatr Otorhinolaryngol. 2019 Sep;124:99-105. doi: 10.1016/j.ijporl.2019.05.023. Epub 2019 May 21.
8
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.一个与DIAPH1相关疾病的大家族中的进行性巨血小板减少症和听力损失
Am J Med Genet A. 2017 Oct;173(10):2826-2830. doi: 10.1002/ajmg.a.38411. Epub 2017 Aug 16.
9
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.首个关于 PTPRQ 作为常染色体显性非综合征性听力损失基因的确认性研究。
J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5.
10
Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.通过全外显子组测序在中国一个家系中鉴定出与常染色体显性非综合征性听力损失相关的新型MYO6突变。
Genes Genet Syst. 2018 Dec 22;93(5):171-179. doi: 10.1266/ggs.18-00006. Epub 2018 Aug 31.

引用本文的文献

1
Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.中国非综合征型听力损失患者 TNC 基因新突变的病例报告。
Medicine (Baltimore). 2024 Apr 19;103(16):e37702. doi: 10.1097/MD.0000000000037702.

本文引用的文献

1
Homozygous Autosomal Recessive Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.与中枢神经系统受累和曲霉病相关的纯合常染色体隐性突变：1例罕见病例
Case Rep Genet. 2022 Sep 29;2022:4142214. doi: 10.1155/2022/4142214. eCollection 2022.
2
Genetic etiology of hearing loss in Iran.伊朗听力损失的遗传病因
Hum Genet. 2022 Apr;141(3-4):623-631. doi: 10.1007/s00439-021-02421-w. Epub 2022 Jan 20.
3
Formins in Human Disease.《人类疾病中的形成蛋白》
Cells. 2021 Sep 27;10(10):2554. doi: 10.3390/cells10102554.
4
Interaction of human oral cancer and the expression of virulence genes of dental pathogenic bacteria.口腔癌与人及口腔致病菌毒力基因表达的相互作用。
Microb Pathog. 2020 Dec;149:104464. doi: 10.1016/j.micpath.2020.104464. Epub 2020 Aug 25.
5
Iranome: A catalog of genomic variations in the Iranian population.伊朗人基因组变异目录：伊朗人群中的基因组变异目录。
Hum Mutat. 2019 Nov;40(11):1968-1984. doi: 10.1002/humu.23880. Epub 2019 Aug 17.
6
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.一个与DIAPH1相关疾病的大家族中的进行性巨血小板减少症和听力损失
Am J Med Genet A. 2017 Oct;173(10):2826-2830. doi: 10.1002/ajmg.a.38411. Epub 2017 Aug 16.
7
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).DIAPH1相关常染色体显性遗传性听力损失（DFNA1）临床和分子表型的扩展
Clin Genet. 2017 Jun;91(6):892-901. doi: 10.1111/cge.12915. Epub 2016 Dec 16.
8
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.伊朗遗传性听力损失的异质性：全面综述
Arch Iran Med. 2016 Oct 1;19(10):720-728.
9
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.通过C末端截短导致DIA1（DIAPH1）的组成性激活会引起人类感音神经性听力损失。
EMBO Mol Med. 2016 Nov 2;8(11):1310-1324. doi: 10.15252/emmm.201606609. Print 2016 Nov.
10
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.