DFNA11是第11个常染色体显性遗传基因座位,其耳聋家系临床表现为迟发性双侧对称性语后聋,早期可为低频或高频听力下降,随着年龄增长逐渐累及全频。但是不同家系的表型差异较大,即使同一家系临床表型也有很大差异。因此本文对DFNA11型家系的临床表型以及相应的突变进行总结分析。
DFNA1 1 is the 1 lth autosomal dominant gene loci. The major clinical manifestations of families with DFNA11 is delayed bilaterally symmetric hearing loss, which only occurs at the low or high frequencies at the early stage and then expands to all frequencies with increasing age. However, the phenotypes vary among different families, or even different members in a family. This article summarizes the clinical phenotypes and relevant gene mutations for DFNA1 1 families.