耳聋严重影响着人类的生活质量,是造成终生残疾的最主要问题之一。遗传性聋是继发于基因或染色体异常等遗传缺陷导致的听力障碍[1]。先天性遗传性聋是听力障碍在出生时即已存在。世界范围内新生儿耳聋的发病率约为1‰～3‰[2]。在遗传性聋中,非综合征性聋约占70%,其余约30%为综合征性聋。学语前非综合征性聋中,约有80%是以常染色体隐性遗传方式 Deafness has a serious impact on the quality of human life and is one of the major causes of life-long disabilities. Hereditary deafness is secondary to hearing loss due to genetic defects such as genetic or chromosomal abnormalities [1]. Congenital hereditary deafness is hearing impairment already existing at birth. The worldwide incidence of neonatal deafness is about 1 ‰ ~ 3 ‰ [2]. In hereditary deaf, non-syndromic deaf accounts for about 70%, the remaining about 30% of the syndrome deafness. About 80% of pre-linguistic non-syndromic deafness are autosomal recessive