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A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.

作者信息

Hamid Mohammad, Karimipoor Morteza, Chaleshtori Morteza Hashemzadeh, Akbari Mohammad Taghi

机构信息

Department of Molecular Medicine, Pasteur Institute of Iran, No. 69, Pasteur Ave, 13164 Tehran, Iran.

出版信息

J Genet. 2009 Dec;88(3):359-62. doi: 10.1007/s12041-009-0054-6.

DOI:10.1007/s12041-009-0054-6
PMID:20086306
Abstract
摘要

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The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.伊朗非综合征性听力损失人群中GJB2基因突变谱——一项为期12年的研究。
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本文引用的文献

1
Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.伊朗常染色体隐性非综合征性听力损失患病家庭中GJB2和GJB6基因的常见突变分析：DFNB1相关耳聋中两种常见突变（35delG/del(GJB6-D13S1830)）的同时检测
Int J Pediatr Otorhinolaryngol. 2007 Jun;71(6):869-73. doi: 10.1016/j.ijporl.2007.02.007. Epub 2007 Mar 21.
2
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.西班牙罗姆人（吉普赛人）中编码连接蛋白26（GJB2）的基因W24X突变在常染色体隐性非综合征性听力损失患者中具有高发生率。
Am J Med Genet A. 2005 Sep 1;137A(3):255-8. doi: 10.1002/ajmg.a.30884.
3
伊朗东部人群遗传性听力损失的遗传学：突变的系统综述
Intractable Rare Dis Res. 2019 Aug;8(3):172-178. doi: 10.5582/irdr.2019.01070.
4
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.
5
A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.与散发性非综合征性感音神经性听力损失病例相关的GJB2基因新的从头显性突变
Iran J Public Health. 2014 Dec;43(12):1710-3.
6
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.GJB2基因c.-23+1G>A突变是伊朗常染色体隐性听力损失患者中第二常见的突变。
Eur Arch Otorhinolaryngol. 2015 Sep;272(9):2255-9. doi: 10.1007/s00405-014-3171-7. Epub 2014 Jul 11.
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.土耳其常染色体隐性非综合征性听力损失患者的GJB2基因突变：患病率及两个新突变
Hear Res. 2005 May;203(1-2):88-93. doi: 10.1016/j.heares.2004.11.022.
4
First molecular screening of deafness in the Altai Republic population.阿尔泰共和国人群耳聋的首次分子筛查。
BMC Med Genet. 2005 Mar 24;6:12. doi: 10.1186/1471-2350-6-12.
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GJB2 mutations: passage through Iran.GJB2基因突变：穿越伊朗。
Am J Med Genet A. 2005 Mar 1;133A(2):132-7. doi: 10.1002/ajmg.a.30576.
6
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.遗传性非综合征性感音神经性听力损失：让寂静变为有声。
J Mol Diagn. 2004 Nov;6(4):275-84. doi: 10.1016/S1525-1578(10)60522-3.
7
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.来自奥地利的非综合征性听力损失患者不存在GJB6基因中的342 kb缺失。
Hum Mutat. 2003 Aug;22(2):180. doi: 10.1002/humu.9167.
8
Connexin 26 35delG does not represent a mutational hotspot.连接蛋白26基因35delG并非突变热点。
Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9.
9
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.GJB6基因的缺失突变与GJB2基因的反式突变协同作用导致非综合征性耳聋：阿什肯纳兹犹太人中的一种新型始祖突变。
Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1222.
10
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.连接蛋白26听力障碍中35delG GJB2基因突变的共同起源。
J Med Genet. 2001 Aug;38(8):515-8. doi: 10.1136/jmg.38.8.515.