一种发生在GJB2基因基础启动子区域的与听力损失相关的新型突变。
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
作者信息
Matos T D, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger D J, O'Neill A, Kelsell D P, Fialho G
出版信息
J Med Genet. 2007 Nov;44(11):721-5. doi: 10.1136/jmg.2007.050682. Epub 2007 Jul 27.
Abstract
Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, -3438C-->T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.
摘要
在许多国家，GJB2基因的突变是导致非综合征性隐性听力损失的主要原因。在相当一部分患者中，仅鉴定出已知为隐性或致病性不明的单等位基因GJB2突变。本文报告了在一名重度听力障碍患者中发现的一种新的GJB2突变，即-3438C→T，该突变位于该基因的基础启动子区，与V84M呈反式排列。这种新突变可消除GJB2的基础启动子活性。这些结果凸显了将突变筛查扩展到GJB2编码区以外区域的重要性。
相似文献
1
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.一种发生在GJB2基因基础启动子区域的与听力损失相关的新型突变。
J Med Genet. 2007 Nov;44(11):721-5. doi: 10.1136/jmg.2007.050682. Epub 2007 Jul 27.
2
[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].[非综合征性感音神经性听力损失中两个隐性连接蛋白突变的假显性现象？]
Laryngorhinootologie. 2006 Mar;85(3):191-6. doi: 10.1055/s-2005-870302.
3
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.
4
GJB2: the spectrum of deafness-causing allele variants and their phenotype.GJB2：致聋等位基因变异谱及其表型
Hum Mutat. 2004 Oct;24(4):305-11. doi: 10.1002/humu.20084.
5
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.GJB2基因突变对澳大利亚小学生轻度或中度听力损失的影响。
J Med Genet. 2006 Nov;43(11):850-5. doi: 10.1136/jmg.2006.042051. Epub 2006 Jul 13.
6
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.在中国听力损失患者中，GJB2 编码区单等位基因突变患者中 GJB2 IVS1+1G >A 突变的流行率。
J Transl Med. 2010 Dec 2;8:127. doi: 10.1186/1479-5876-8-127.
7
Prevalent connexin 26 gene (GJB2) mutations in Japanese.日本人群中常见的连接蛋白26基因（GJB2）突变
J Med Genet. 2000 Jan;37(1):41-3. doi: 10.1136/jmg.37.1.41.
8
Coincidence of mutations in different connexin genes in Hungarian patients.匈牙利患者不同连接蛋白基因突变的巧合情况。
Int J Mol Med. 2007 Sep;20(3):315-21.
9
Auditory responses in cochlear implant users with and without GJB2 deafness.患有和未患有GJB2耳聋的人工耳蜗使用者的听觉反应。
Laryngoscope. 2006 Feb;116(2):317-27. doi: 10.1097/01.mlg.0000199401.26626.4b.
10
The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.启动子突变c.-259C>T（-3438C>T）并非奥地利非综合征性听力障碍的常见病因。
Eur Arch Otorhinolaryngol. 2015 Jan;272(1):229-32. doi: 10.1007/s00405-014-3223-z. Epub 2014 Aug 2.
引用本文的文献
1
Genetic etiology of non-syndromic hearing loss in Europe.欧洲非综合征性听力损失的遗传病因
Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19.
2
Whole-Genome Sequencing Improves the Diagnosis of Monoallelic Patients.全基因组测序提高单等位基因突变患者的诊断率。
Genes (Basel). 2021 Aug 19;12(8):1267. doi: 10.3390/genes12081267.
3
Unique Mutational Spectrum of the Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).俄罗斯图瓦人（南西伯利亚）耳聋相关基因的独特突变谱及其致病性：罕见变异 c.516G>C（p.Trp172Cys）的高发生率。
Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429.
4
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.阐明越南儿科人群中严重听力损失的独特突变谱。
Sci Rep. 2019 Feb 7;9(1):1604. doi: 10.1038/s41598-018-38245-4.
5
Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.蒙古人群聋相关突变的独特谱型为欧亚人群遗传关系提供了新视角。
PLoS One. 2018 Dec 21;13(12):e0209797. doi: 10.1371/journal.pone.0209797. eCollection 2018.
6
Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.与[具体病因不明]相关的听力损失的诊断陷阱：通过阵列比较基因组杂交分析在一名先天性重度听力损失的日本患者中检测到一种新型缺失。
Clin Case Rep. 2018 Sep 21;6(11):2111-2116. doi: 10.1002/ccr3.1800. eCollection 2018 Nov.
7
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.DFNB1 型非综合征性听力损失：突变的多样性及相关表型
Front Mol Neurosci. 2017 Dec 22;10:428. doi: 10.3389/fnmol.2017.00428. eCollection 2017.
8
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?通过大规模平行测序解析神秘的听力受损GJB2单杂合子：是否为DFNB1？
Medicine (Baltimore). 2016 Apr;95(14):e3029. doi: 10.1097/MD.0000000000003029.
9
Gap junctional coupling is essential for epithelial repair in the avian cochlea.缝隙连接耦合对于鸟类耳蜗的上皮修复至关重要。
J Neurosci. 2014 Nov 26;34(48):15851-60. doi: 10.1523/JNEUROSCI.1932-14.2014.
10
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.内耳中的连接蛋白和缝隙连接——其作用不仅关乎钾离子循环。
Cell Tissue Res. 2015 Jun;360(3):633-44. doi: 10.1007/s00441-014-2029-z. Epub 2014 Nov 9.
本文引用的文献
1
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.编码连接蛋白26的GJB2基因的DNA序列分析：来自听力受损病例群体的观察结果以及对照人群中可变的携带者频率、复杂基因型和等位基因的种族分层。
Am J Med Genet A. 2006 Nov 15;140(22):2401-15. doi: 10.1002/ajmg.a.31525.
2
Non-syndromic, autosomal-recessive deafness.非综合征性常染色体隐性遗传性耳聋。
Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x.
3
Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea.听觉耳蜗中的分隔式和信号选择性缝隙连接耦合
J Neurosci. 2006 Jan 25;26(4):1260-8. doi: 10.1523/JNEUROSCI.4278-05.2006.
4
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.聋校儿童中连接蛋白26变体与听觉神经病/失同步
Am J Med Genet A. 2005 Nov 15;139(1):13-8. doi: 10.1002/ajmg.a.30929.
5
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.在患有DFNB1非综合征性听力障碍的受试者中发现一种涉及连接蛋白30基因的新型缺失，即del(GJB6-d13s1854)，它与GJB2基因（连接蛋白26）的突变呈反式排列。
J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324.
6
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.突变型连接蛋白中肌醇三磷酸（Ins(1,4,5)P3）通透性受损是隐性遗传性耳聋的基础。
Nat Cell Biol. 2005 Jan;7(1):63-9. doi: 10.1038/ncb1205. Epub 2004 Dec 12.
7
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.连接蛋白32启动子P2突变：一种周围神经功能障碍的机制。
Ann Neurol. 2004 Nov;56(5):730-4. doi: 10.1002/ana.20267.
8
Molecular epidemiology of DFNB1 deafness in France.法国DFNB1型耳聋的分子流行病学
BMC Med Genet. 2004 Mar 6;5:5. doi: 10.1186/1471-2350-5-5.
9
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.听力受损受试者中DFNB1位点del(GJB6-D13S1830)突变的患病率及进化起源：一项多中心研究
Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21.
10
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.北美一个大型先天性耳聋先证者数据库中GJB2（连接蛋白26）和GJB6（连接蛋白30）突变的频率及分布情况
Genet Med. 2003 Jul-Aug;5(4):295-303. doi: 10.1097/01.GIM.0000078026.01140.68.
Zotero 插件