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[Genetic and audiological characters of a Chinese family with non-syndromic hereditary hearing loss].

[Article in Chinese]

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Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.



To investigate the phenotype and genetic characters of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.


A Chinese pedigree associated with an autosomal-dominant inherited high-frequency sensorineural hearing loss was investigated. After obtaining informed consent from all study participants medical and audiological examination to rule out any syndromic hearing impairment. Application of microsatellite markers on DFNA 21 loci preliminary screening of 23 genes, data were analyzed by linkage analysis.


Proband of the family had been diagnosed with high-frequency sensorineural hearing loss. A Chinese family SX-H043 with non-syndromic hearing loss were ascertained. This Chinese family with late onset hearing impairment spanned four generations and comprised 43 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Hearing impairment of affected members in family SX-H043 occurred 25 to 50 years descending audiograms. Whole frequencies became involved with increasing age.


A Chinese family with late-onset high-frequency sensorineural hearing loss were clinically studied. Positive sites were not found in the known deafness loci screening. The information should facilitate future gene scan and linkage analyses for novel relative genes contributing to high-frequency sensorineural hearing loss.

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