中华耳科学杂志Issue(2)：156-162,7.
10年追踪分析常染色体显性遗传非综合征性耳聋(DFNA41)家系听力学及遗传学特征
Audiological and genetic characteristics of autosomal dominant nonsyndromic deafness (DFNA41): a ten-year follow-up report
摘要
Abstract
Objective To report clinical, genetic, and molecular characteristics of a Chinese family with 6 generations demonstrating hearing loss associated with DFNA41. Methods Fifty five subjects in the family were followed up for 10 years after they were mapped for the DFNA41 gene. Blood samples from some of the members were screened for mutation of 11 candidate causative genes. Results In all affected subjects, audiometry showed symmetrical bilateral sen-sorineural hearing loss of mild to severe degrees. All male affected members presented sloping high frequency hearing loss at young ages, while all female affected members with low frequency loss with ascending patterns at young ages. As the age increased, hearing loss affected all frequencies in both male and female members and showed a flat pattern. DNA sequencing of coding and exon-intron boundaries of 11 potential inner ear enriched genes in affected subjects did not reveal any disease causing mutation in this DFNA41 family. Conclusion The phenotype of this DFNA41 family appears to be related to the patient's gender and age. Further research on the genotype and phenotype of DFNA41 families will help clone the causative gene.关键词
常染色体显性遗传/遗传性耳聋/表型/家系Key words
Autosomal dominant inheritance/Hereditary hearing loss/Phenotype/Pedigree分类
医药卫生引用本文复制引用
周学军,欧阳小梅,袁慧军,杜利林,冀飞,韩东一,刘学忠..10年追踪分析常染色体显性遗传非综合征性耳聋(DFNA41)家系听力学及遗传学特征[J].中华耳科学杂志,2011,(2):156-162,7.基金项目
美国国立卫生研究院基金(DC R01 05575)和中国国家自然科学基金(30528025)联合资助. （DC R01 05575）
