Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
; (24): 395-398, 2011.
Article
em Zh
| WPRIM
| ID: wpr-748456
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
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Receptores de Estrogênio
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Audiologia
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Transtornos Cromossômicos
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Povo Asiático
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Genética
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Perda Auditiva
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Testes Auditivos
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2011
Tipo de documento:
Article