The audiological characteristics of a hereditary Y-linked hearing loss in a Chinese ethnic Tujia pedigree

Objective: To investigate audiometric characteristics of hearing loss in a large Chinese ethnic Tujia family and determine its hereditary type. Methods: Total 76 live individuals were investigated in the notable 84 members of this family. The detailed audiometric evaluations were undertaken for the proband and his 47 family members. The degrees of sensorineural hearing impairment were defined as an air/bone gap < 15 dB hearing loss averaged over 0.5, 1 and 2 kHz. The severity of hearing loss was established based on the hearing ability of the better ear, averaged over 0.5, 1,2 and 4 kHz, and classified into four categories: mild, moderate, severe and profound. Results: Nineteen patrilineal relatives of the 76 live members had hearing impairment. The age of onset ranged from 7 to 21 years old with the average of 13.2 years. The audiometric defect was described by auditory curves of a high frequency in 47% of the patients. Affected members in this family demonstrated a non-syndromic, late onset, bilateral, symmetrical, postlingual and sensorineural hearing loss. Conclusions: The audiometric configuration in males of the pedigree is consistent with the hereditary Y-linked hearing loss. Thus we speculate that a putative gene on the Y chromosome could contribute to the cause of the disease. (c) 2010 Elsevier Ireland Ltd. All rights reserved.