• 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

在中国一个家族中鉴定出与常染色体隐性听力损失相关的两个新型复合杂合PTPRQ突变

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

作者信息

Gao Xue, Su Yu, Chen Yu-Lan, Han Ming-Yu, Yuan Yong-Yi, Xu Jin-Cao, Xin Feng, Zhang Mei-Guang, Huang Sha-Sha, Wang Guo-Jian, Kang Dong-Yang, Guan Li-Ping, Zhang Jian-Guo, Dai Pu

机构信息

Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China; Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China; Department of Otorhinolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.

Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China; Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.

出版信息

PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015.

DOI:10.1371/journal.pone.0124757
PMID:25919374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4412678/
Abstract

Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (paternal allele), in the PTPRQ gene, as the cause of recessively inherited sensorineural hearing loss in family 1572. Both variants co-segregated with hearing loss phenotype in family 1572, but were absent in 74 familial patients. Heterozygosity for c. 3125 A>G was identified in two samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ.

摘要

由于毛细胞中静纤毛的缺陷，PTPRQ基因的突变与人类耳聋有关。通过全外显子组测序，我们确定了1572家系常染色体隐性非综合征性听力损失（ARNSHL）的致病基因。我们还使用了来自74名ARNSHL家族患者的DNA和656条种族匹配的对照染色体进行扩展变异分析。我们在PTPRQ基因中鉴定出两个新的复合杂合错义突变，即c.3125 A>G p.D1042G（母本等位基因）和c.5981 A>G p.E1994G（父本等位基因），它们是1572家系隐性遗传性感音神经性听力损失的病因。这两个变异在1572家系中均与听力损失表型共分离，但在74名家族患者中未出现。在两名未受影响的中国个体（656条染色体）的样本中鉴定出c.3125 A>G的杂合性。因此，该家系的听力损失是由PTPRQ基因中的两个新的复合杂合突变引起的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5499/4412678/e57dac1f5428/pone.0124757.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5499/4412678/066a6e97d864/pone.0124757.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5499/4412678/e57dac1f5428/pone.0124757.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5499/4412678/066a6e97d864/pone.0124757.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5499/4412678/e57dac1f5428/pone.0124757.g002.jpg

相似文献

1
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.在中国一个家族中鉴定出与常染色体隐性听力损失相关的两个新型复合杂合PTPRQ突变
PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015.
2
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.常染色体隐性遗传性先天性感觉神经性聋一家系中新型 PTPRQ 复合杂合突变的研究
Neural Plast. 2018 Apr 19;2018:9425725. doi: 10.1155/2018/9425725. eCollection 2018.
3
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.在一个患有语前感音神经性听力损失的DFNB84家族中鉴定出PTPRQ基因的一种新型复合杂合突变。
Mol Genet Genomics. 2015 Jun;290(3):1135-9. doi: 10.1007/s00438-014-0979-1. Epub 2015 Jan 4.
4
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.一个中国家庭中常染色体隐性遗传性耳聋与 TMC1 基因的新型复合杂合突变有关。
PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026. Print 2013.
5
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.
6
Identification of Hearing Loss-Associated Variants of , , and in Pakistani Families.鉴定巴基斯坦家族中与 、 、 相关的听力损失变异体。
Biomed Res Int. 2021 Apr 24;2021:5584788. doi: 10.1155/2021/5584788. eCollection 2021.
7
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.通过全外显子组测序鉴定出常染色体隐性遗传性听力损失中MYO15A基因的新型复合杂合突变。
J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284.
8
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.由于中国患者中一种新型的复合杂合 PTPRQ 突变导致的迟发性进行性感觉神经性听力损失。
J Clin Lab Anal. 2023 Apr;37(7):e24886. doi: 10.1002/jcla.24886. Epub 2023 Apr 27.
9
Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.来自一个中国藏族家庭的常染色体隐性非综合征性听力损失是由TMC1基因中的新型复合杂合突变引起的。
Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2216-21. doi: 10.1016/j.ijporl.2014.10.016. Epub 2014 Oct 22.
10
Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.一个中国家系中新型隐性 PDZD7 双等位基因突变与遗传性听力损失相关。
Gene. 2019 Aug 15;709:65-74. doi: 10.1016/j.gene.2019.05.045. Epub 2019 May 23.

引用本文的文献

1
Novel variants associated with hearing loss in a Chinese family variants in Chinese hearing loss.一个中国家庭中与听力损失相关的新型变异 中国听力损失中的变异
Front Genet. 2024 Aug 14;15:1399760. doi: 10.3389/fgene.2024.1399760. eCollection 2024.
2
Detailed Clinical Features of -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.在一个大型日本听力损失队列中确定的与[具体内容缺失]相关的听力损失的详细临床特征。
Genes (Basel). 2024 Apr 12;15(4):489. doi: 10.3390/genes15040489.
3
Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.

本文引用的文献

1
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.GRXCR2基因中的移码突变导致隐性遗传性听力损失。
Hum Mutat. 2014 May;35(5):618-24. doi: 10.1002/humu.22545. Epub 2014 Apr 7.
2
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.一个中国家庭中常染色体隐性遗传性耳聋与 TMC1 基因的新型复合杂合突变有关。
PLoS One. 2013 May 14;8(5):e63026. doi: 10.1371/journal.pone.0063026. Print 2013.
3
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
由于中国患者中一种新型的复合杂合 PTPRQ 突变导致的迟发性进行性感觉神经性听力损失。
J Clin Lab Anal. 2023 Apr;37(7):e24886. doi: 10.1002/jcla.24886. Epub 2023 Apr 27.
4
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?经典蛋白酪氨酸磷酸酶基因的可遗传变异：它们会被证明是无辜的还是有罪的？
Front Cell Dev Biol. 2023 Jan 23;10:1051311. doi: 10.3389/fcell.2022.1051311. eCollection 2022.
5
Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.基因-panel 检测在不同患者群体中对感音神经性听力损失的检测结果。
JAMA Netw Open. 2022 Sep 1;5(9):e2233441. doi: 10.1001/jamanetworkopen.2022.33441.
6
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family.靶向二代测序在中国一个家庭中发现了导致常染色体隐性听力损失的基因中的新型复合杂合变异。
Front Genet. 2022 Jul 8;13:884522. doi: 10.3389/fgene.2022.884522. eCollection 2022.
7
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.
8
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.常染色体隐性遗传性先天性感觉神经性聋一家系中新型 PTPRQ 复合杂合突变的研究
Neural Plast. 2018 Apr 19;2018:9425725. doi: 10.1155/2018/9425725. eCollection 2018.
9
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.在一个患有常染色体隐性遗传性听力损失的伊朗家系中鉴定新型蛋白酪氨酸磷酸酶受体Q（PTPRQ）和肌球蛋白1A（MYO1A）突变
Cell J. 2018 Apr;20(1):127-131. doi: 10.22074/cellj.2018.4805. Epub 2017 Dec 1.
10
Genetic causes of moderate to severe hearing loss point to modifiers.中度至重度听力损失的遗传原因指向修饰基因。
Clin Genet. 2017 Apr;91(4):589-598. doi: 10.1111/cge.12856. Epub 2016 Oct 6.
编码含有 EAR/EPTP 结构域的蛋白 TSPEAR 的基因突变导致 DFNB98 型先天性耳聋。
Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7.
4
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.下一代测序技术确定了 SMPX 基因突变，该基因编码 X 连锁的小肌肉蛋白，是进行性听力损伤的原因。
Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5.
5
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.DNMT1 基因突变导致遗传性感觉运动神经病伴痴呆和听力损失。
Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
6
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.线粒体组氨酰 tRNA 合成酶 HARS2 突变导致 Perrault 综合征的卵巢发育不良和感觉神经性耳聋。
Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.
7
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).癌胚抗原相关细胞黏附分子 16 与α-张力蛋白相互作用，并且在常染色体显性遗传性听力损失（DFNA4）中发生突变。
Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22.
8
How the genetics of deafness illuminates auditory physiology.耳聋遗传学如何阐明听觉生理学。
Annu Rev Physiol. 2011;73:311-34. doi: 10.1146/annurev-physiol-012110-142228.
9
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.基因突变导致遗传性疾病的蛋白质结构分析。一种具有生命科学家友好界面的电子科学方法。
BMC Bioinformatics. 2010 Nov 8;11:548. doi: 10.1186/1471-2105-11-548.
10
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.Carnevale、Malpuech、OSA 和 Michels 综合征患者的面部、脐部、尾骨和耳部表现的 MASP1 突变。
Am J Hum Genet. 2010 Nov 12;87(5):679-86. doi: 10.1016/j.ajhg.2010.09.018. Epub 2010 Oct 28.