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[Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss].

[Article in Chinese]

Author information

  • 1Department of Otorhinolaryngology-Head and Neck Surgery, Institute of Otorhinolaryngology, PLA General Hospital, Beijing, 100853, China.

Abstract

OBJECTIVE:

To analysis the characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss in detail.

METHOD:

A detailed family history and clinical data were collected. The Chinese pedigree is an autosomal-dominant inherited hearing loss. The data of audiological examination about genetic characteristics was analysed. The relationship between the hearing-impaired of this family and age was contrasted.

RESULT:

This Chinese family spanned five generations and comprised 42 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Pure-tone audiograms showed a so-called Z shape curve. The hearing loss is sensorineural, progressive and beginning at the high frequencies. The audiograms were fairly symmetric. Whole frequencies became involved with increasing age.

CONCLUSION:

The Chinese family with the DFNA5 mutation was an autosomal dominant pedigree. In this family, non-syndromic symmetric hearing impairment was severest at the high frequencies early, and gradually accumulated all frequencies of hearing. A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment. It should take into account DFNA5 mutation which the audiogram of a genetic hearing impaired has the same feature.

PMID:
21805831
[PubMed - indexed for MEDLINE]
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