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

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单位: [1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Otolaryngol, Wuhan 430030, Hubei Province, Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Hubei Province, Peoples R China [3]Univ Sherbrooke, Fac Med & Hlth Sci, Dept Pediat Med Genet, Sherbrooke, PQ J1K 2R1, Canada [4]Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China
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关键词: Hearing loss Pedigree Chinese Y-linked inheritance

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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.

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出版当年[2010]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学 4 区 儿科
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 耳鼻喉科学 4 区 儿科
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出版当年[2009]版:
Q3 PEDIATRICS Q3 OTORHINOLARYNGOLOGY
最新[2023]版:
Q3 OTORHINOLARYNGOLOGY Q3 PEDIATRICS

影响因子: 最新[2023版] 最新五年平均 出版当年[2009版] 出版当年五年平均 出版前一年[2008版] 出版后一年[2010版]

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第一作者单位: [2]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Hubei Province, Peoples R China
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通讯机构: [1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Otolaryngol, Wuhan 430030, Hubei Province, Peoples R China [*1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Otolaryngol, 1095 Jiefang Rd, Wuhan 430030, Hubei Province, Peoples R China
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