[Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hearing loss].
OBJECTIVE
To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.


METHODS
Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed.


RESULTS
The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age.


CONCLUSIONS
Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.
Department of Otorhinolaryngology-Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
Hongbo
H
Li
Jing
J
Cheng
Yu
Y
Lu
Zhengyue
Z
Li
Jingjie
J
Jia
Huijun
H
Yuan
Dongyi
D
Han
D000328:Adult; D017668:Age of Onset; D044466:Asian People; D002681:China; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns; D010375:Pedigree; D055815:Young Adult