A novel hearing loss-related mutation occurring in the GJB2 basal promoter

被引：39

作者：

Matos, T. D.

Caria, H.

Simoes-Teixeira, H.

Aasen, T.

Nickel, R.

Jagger, D. J.

O'Neill, A.

Kelsell, D. P.

Fialho, G.

机构：

[1] Queen Mary Univ London, Ctr Cutaneous Res, Inst Cell & Mol Sci, London E1 2AT, England

[2] Univ Nova Lisboa, Inst Ciencia Aplicada & Tecnol, Ctr Genet & Biol Mol, P-1200 Lisbon, Portugal

[3] Inst Politecn Setubal, Escuela Super Saude, Setubal, Portugal

[4] Hosp Egas Moniz, Serv ORL, Lisbon, Portugal

[5] UCL, Ctr Auditory Res, UCL Ear Inst, London, England

来源：

JOURNAL OF MEDICAL GENETICS | 2007年 / 44卷 / 11期

关键词：

D O I：

10.1136/jmg.2007.050682

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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收藏

页码：721 / 725

页数：5

相关论文

共 20 条

[11] Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea [J].

Jagger, DJ ;

Forge, A .

JOURNAL OF NEUROSCIENCE, 2006, 26 (04) :1260-1268

[12] GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review [J].

Kenneson, A ;

Braun, KV ;

Boyle, C .

GENETICS IN MEDICINE, 2002, 4 (04) :258-274

[13] Upstream genomic sequence of the human connexin26 gene [J].

Kiang, DT ;

Jin, N ;

Tu, ZJ ;

Lin, HH .

GENE, 1997, 199 (1-2) :165-171

[14] GAP-JUNCTIONS IN THE RAT COCHLEA - IMMUNOHISTOCHEMICAL AND ULTRASTRUCTURAL ANALYSIS [J].

KIKUCHI, T ;

KIMURA, RS ;

PAUL, DL ;

ADAMS, JC .

ANATOMY AND EMBRYOLOGY, 1995, 191 (02) :101-118

[15] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands [J].

Pandya, A ;

Arnos, KS ;

Xia, XJ ;

Welch, KO ;

Blanton, SH ;

Friedman, TB ;

Sanchez, GG ;

Liu, XZ ;

Morell, R ;

Nance, WE .

GENETICS IN MEDICINE, 2003, 5 (04) :295-303

[16] Non-syndromic, autosomal-recessive deafness [J].

Petersen, MB ;

Willems, PJ .

CLINICAL GENETICS, 2006, 69 (05) :371-392

[17]

Roux Anne-Francoise, 2004, BMC Med Genet, V5, P5

[18] 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 [J].

Tang, Hsiao-Yuan ;

Fang, Ping ;

Ward, Patricia A. ;

Schmitt, Eric ;

Darilek, Sandra ;

Manolidis, Spiros ;

Oghalai, John S. ;

Roa, Benjamin B. ;

Alford, Raye Lynn .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (22) :2401-2415

[19] Mapping and characterization of the basal promoter of the human connexin26 gene [J].

Tu, ZJ ;

Kiang, DT .

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1998, 1443 (1-2) :169-181

[20] Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene [J].

Wang, HL ;

Wu, T ;

Chang, WT ;

Li, AH ;

Chen, MS ;

Wu, CY ;

Fang, W .

MOLECULAR BRAIN RESEARCH, 2000, 78 (1-2) :146-153