Is hearing loss due to mutations in the Connexin 26 gene progressive?
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.
Gopalarao
Deepika
D
Ali Yavar Jung National Institute for the Hearing Handicapped, New Delhi, India.
Kimberling
William J
WJ
Jesteadt
Walt
W
Kelley
Philip M
PM
Beauchaine
Kathryn L
KL
Cohn
Edward S
ES
D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D013997:Time Factors
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26