关键词: 遗传性迟发型耳聋家系, 候选基因捕获测序, GJB3基因, 致病突变

Abstract: Objective Investigate the clinical features and pathogenic genes ofa family with hereditary late-onset deafness in Inner Mongolia, and to provide evidence for the early screening and diagnosis of this disease. Methods Through family survey, conducted audiological testing and physical examination of the family members; draw a family tree, collate and analyze the family data; extracting peripheral blood DNA; using the candidate gene capture sequencing method was used to detect the 127 known genes in the proband, the mutated gene loci were amplified by PCR and Sanger sequenced. Results The family a total of 6 generations, which dates back to the 53 people, 19 people are deaf, postlingually deaf, showed delayed and progressive hearing loss, the age of onset was 10~40 years, patients with hearing loss showed bilateral symmetric mild to severe sensorineural deafness. The results of the proband identified 1 potential pathogenic loci:GJB3, c.400A>G that were not clinically clear. The sequence was verified by direct sequencing, and there was no common segregation in this family. Conclusions It is dominant. From the proband we captured the gene mutation(GJB3, c.400A>G) and from a autosomal dominant deafness family detection it can not be identified as the family mutation, further through a new generation of sequencing of whole genomesequencing technology to explore.

Key words: The family with hereditary late-onset deafness, Candidate gene capture sequencing, GeneGJB3, mutation