Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss.
- Author:
Zhanguo JIN
1
;
Jing CHENG
;
Bing HAN
;
Hongbo LI
;
Yu LU
;
Zhengyue LI
;
Dongyi HAN
Author Information
1. Department of Otorhinolaryngology-Head and Neck Surgery, Institute of Otorhinolaryngology, PLA General Hospital, Beijing, 100853, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Asian Continental Ancestry Group;
genetics;
Audiology;
Child;
Chromosome Disorders;
genetics;
Female;
Hearing Loss;
genetics;
physiopathology;
Hearing Tests;
Humans;
Male;
Middle Aged;
Pedigree;
Receptors, Estrogen;
genetics;
Young Adult
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2011;25(9):395-398
- CountryChina
- Language:Chinese
-
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.
