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

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