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.

引用

页码：721 / 725

页数：5

共 20 条

[1] Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness [J].

Beltramello, M ;

Piazza, V ;

Bukauskas, FF ;

Pozzan, T ;

Mammano, F .

NATURE CELL BIOLOGY, 2005, 7 (01) :63-+

[2] Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf [J].

Cheng, X ;

Li, L ;

Brashears, S ;

Morlet, T ;

Ng, SS ;

Berlin, C ;

Hood, L ;

Keats, B .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 139A (01) :13-18

[3] 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 [J].

del Castillo, FJ ;

Rodríguez-Ballesteros, M ;

Alvarez, A ;

Hutchin, T ;

Leonardi, E ;

de Oliveira, CA ;

Azaiez, H ;

Brownstein, Z ;

Avenarius, MR ;

Marlin, S ;

Pandya, A ;

Shahin, H ;

Siemering, KR ;

Weil, D ;

Wuyts, W ;

Aguirre, LA ;

Martín, Y ;

Moreno-Pelayo, MA ;

Villamar, M ;

Avraham, KB ;

Dahl, HHM ;

Kanaan, M ;

Nance, W ;

Petit, C ;

Smith, RJH ;

Van Camp, G ;

Sartorato, EL ;

Murgia, A ;

Moreno, F ;

del Castillo, I .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (07) :588-594

[4] A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. [J].

del Castillo, I ;

Villamar, M ;

Moreno-Pelayo, MA ;

del Castillo, FJ ;

Alvarez, A ;

Tellería, D ;

Menéndez, I ;

Moreno, F .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (04) :243-U1

[5] Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects:: a multicenter study [J].

del Castillo, I ;

Moreno-Pelayo, MA ;

del Castillo, FJ ;

Brownstein, Z ;

Marlin, S ;

Adina, Q ;

Cockburn, DJ ;

Pandya, A ;

Siemering, KR ;

Chamberlin, GP ;

Ballana, E ;

Wuyts, W ;

Maciel-Guerra, AT ;

Alvarez, A ;

Villamar, M ;

Shohat, M ;

Abeliovich, D ;

Dahl, HHM ;

Estivill, X ;

Gasparini, P ;

Hutchin, T ;

Nance, WE ;

Sartorato, EL ;

Smith, RJH ;

Van Camp, G ;

Avraham, KB ;

Petit, C ;

Moreno, F .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1452-1458

[6] Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect:: implications for genetic counselling [J].

Denoyelle, F ;

Marlin, S ;

Weil, D ;

Moatti, L ;

Chauvin, P ;

Garabédian, EN ;

Petit, C .

LANCET, 1999, 353 (9161) :1298-1303

[7] Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness [J].

Green, GE ;

Scott, DA ;

McDonald, JM ;

Woodworth, GG ;

Sheffield, VC ;

Smith, RJH .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1999, 281 (23) :2211-2216

[8] Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction [J].

Houlden, H ;

Girard, M ;

Cockerell, C ;

Ingram, D ;

Wood, NW ;

Goossens, M ;

Walker, RWH ;

Reilly, MM .

ANNALS OF NEUROLOGY, 2004, 56 (05) :730-734

[9] Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss [J].

Houseman, MJ ;

Ellis, LA ;

Pagnamenta, A ;

Di, WL ;

Rickard, S ;

Osborn, AH ;

Dahl, HHM ;

Taylor, GR ;

Bitner-Glindzicz, M ;

Reardon, W ;

Mueller, RF ;

Kelsell, DP .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (01) :20-25

[10] Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy [J].

Ionasescu, VV ;

Searby, C ;

Ionasescu, R ;

Neuhaus, IM ;

Werner, R .

NEUROLOGY, 1996, 47 (02) :541-544

← 1 2 →