Fig 1.

A. The pedigree of family #208. Open symbols, unaffected; solid symbols, affected. Squares, male; circles, female; slashed, deceased individual. Slanting arrow, the proband. B. The heterozygous c.889G>A, p.C162Y variant. This variant is located in the seventh exon of COCH gene and was identified in the affected members in family #208. C. Results of pure tone audiometry for two visits of proband in family #208 with hearing loss. Threshold data were obtained from both ears. Blue symbols, results from first visit; red symbols, results from the follow-up visit. The results presented bilateral sensorineural hearing loss with a decreasing pattern, involving the low frequencies. The threshold of the patient’s audiogram showed a mild decrease in the high frequencies in the follow-up visit. D. The pedigree of family #32. Open symbols, unaffected; solid symbols, affected. Squares, male; circles, female; slashed, deceased individual. Slanting arrow, the proband. E. Results of the pure tone audiometry of proband in family #32 at the first visit. Severe sensorineural hearing loss in the left ear (50 dB HL by 6-tone average) and complete deafness at all frequencies in the right ear were shown (purple symbols). After 1 week, reexamination of the audiogram showed a 10 dB recovery in low frequencies (yellow symbols). F. Results of the pure tone audiometry of the proband in family #32 at the second visit. Two years later, the proband suffered another episode of sudden deafness at all frequencies (purple symbols), but the treatment showed limited effects according to the results 1 week later (yellow symbols).