Is hearing loss due to mutations in the Connexin 26 gene progressive?

被引：21

作者：

Gopalarao, Deepika ^{[2
]}

Kimberling, William J. ^{[1
]}

Jesteadt, Walt ^{[1
]}

Kelley, Philip M. ^{[1
]}

Beauchaine, Kathryn L. ^{[1
]}

Cohn, Edward S. ^{[1
]}

机构：

[1] Boys Town Natl Res Hosp, Omaha, NE 68131 USA

[2] Ali Yavar Jung Natl Inst Hearing Handicapped, New Delhi, India

来源：

INTERNATIONAL JOURNAL OF AUDIOLOGY | 2008年 / 47卷 / 01期

关键词：

progression of hearing loss; 35delG; DFNB1; GJB2; non-syndromic recessive hearing loss;

D O I：

10.1080/14992020701602087

中图分类号：

R36 [病理学]; R76 [耳鼻咽喉科学];

学科分类号：

100104 ; 100213 ;

摘要：

Serial audiograms were analysed for seven subjects, who were homozygous for the 35delG GJB2 mutation. The criterion for determining progression of hearing loss was at least a 1-dB loss in air conduction pure-tone average-3 (ACPTA-3) or ACPTA-4 per year for 2 to 10 years, with a minimum change of 10 dB ACPTA 3 or 4. Bilateral progression of hearing loss was found in 43% (3/7) of the subjects. A meta-analysis of seven studies with non-overlapping data sets and similar ascertainment criteria indicated that 19% of DFNB1 subjects with GJB2 mutations have progressive hearing loss. These data suggest that it may be incorrect to assume that congenital hearing loss due to this mutation is stable. We recommend rigorous audiologic surveillance for individuals with DFNB1.

引用

页码：11 / 20

页数：10

共 27 条

[1] GJB2:: The spectrum of deafness-causing allele variants and their phenotype [J].

Azaiez, H ;

Chamberlin, GP ;

Fischer, SM ;

Welp, CL ;

Prasad, SD ;

Taggart, RT ;

del Castillo, I ;

Van Camp, G ;

Smith, RJH .

HUMAN MUTATION, 2004, 24 (04) :305-311

[2] Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) [J].

Cohn, ES ;

Kelley, PM ;

Fowler, TW ;

Gorga, MP ;

Lefkowitz, DM ;

Kuehn, HJ ;

Schaefer, GB ;

Gobar, LS ;

Hahn, FJ ;

Harris, DJ ;

Kimberling, WJ .

PEDIATRICS, 1999, 103 (03) :546-550

[3] A genotype-phenotype correlation for GJB2 (connexin 26) deafness [J].

Cryns, K ;

Orzan, E ;

Murgia, A ;

Huygen, PLM ;

Moreno, F ;

del Castillo, I ;

Chamberlin, GP ;

Azaiez, H ;

Prasad, S ;

Cucci, RA ;

Leonardi, E ;

Snoeckx, RL ;

Govaerts, PJ ;

Van de Heyning, PH ;

Van de Heyning, CM ;

Smith, RJH ;

Van Camp, G .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (03) :147-154

[4] 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

[5] Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation:: Genotypic and phenotypic analysis [J].

Feldmann, D ;

Denoyelle, F ;

Chauvin, P ;

Garabédian, EN ;

Couderc, M ;

Odent, S ;

Joannard, A ;

Schmerber, S ;

Delobel, B ;

Leman, J ;

Journel, H ;

Catros, H ;

Le Maréchal, C ;

Dollfus, H ;

Eliot, MM ;

Delaunoy, JP ;

David, A ;

Calais, C ;

Drouin-Garraud, V ;

Obstoy, MF ;

Bouccara, D ;

Sterkers, O ;

Huy, PTB ;

Goizet, C ;

Duriez, F ;

Fellmann, F ;

Hélias, J ;

Vigneron, J ;

Montaut, B ;

Lewin, P ;

Petit, C ;

Marlin, S .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 127A (03) :263-267

[6] Genetic testing to identify deaf newborns [J].

Green, GE ;

Smith, RJH ;

Bent, JP ;

Cohn, ES .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2000, 284 (10) :1245-1245

[7] Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations -: phenotypic spectrum and frequencies of GJB2 mutations in Austria [J].

Janecke, AR ;

Hirst-Stadlmann, A ;

Günther, B ;

Utermann, B ;

Müller, T ;

Löffler, J ;

Utermann, G ;

Nekahm-Heis, D .

HUMAN GENETICS, 2002, 111 (02) :145-153

[8] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss [J].

Kelley, PM ;

Harris, DJ ;

Comer, BC ;

Askew, JW ;

Fowler, T ;

Smith, SD ;

Kimberling, WJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :792-799

[9]

KENNA M, 2005, AUDIOLOGIC CLIN PHEN

[10] 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

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