Volk Alexander E, Lang-Roth Ruth, Yigit Goekhan, Borck Guntram, Nuernberg Gudrun, Rosenkranz Stephan, Nuernberg Peter, Kubisch Christian, Beutner Dirk
Institute of Human Genetics, University of Ulm, Ulm, Germany.
Audiol Neurootol. 2013;18(3):192-9. doi: 10.1159/000350246. Epub 2013 Apr 26.
Mutations in MYO6 encoding an atypical myosin motor protein important for inner ear hair cell function have been associated with autosomal recessive (DFNB37) and autosomal dominant (DFNA22) types of hearing loss in a few families worldwide. After genome-wide linkage analysis, we identified a novel MYO6 mutation at the splice acceptor site of exon 7 (c.554-1G>A) in an extended German family with autosomal dominant postlingual non-syndromic hearing impairment. Analysis of blood-derived cDNA revealed different aberrantly spliced mRNAs caused by the mutation, which are predicted to severely interfere with protein function. Two of the family members underwent cochlear implantation at ages 53 and 65. Here, we present detailed clinical data of this family which suggest a favourable outcome of cochlear implantation in hearing-impaired individuals with a MYO6 mutation.
编码对内耳毛细胞功能至关重要的非典型肌球蛋白运动蛋白的MYO6基因突变，在全球少数家族中与常染色体隐性（DFNB37）和常染色体显性（DFNA22）听力损失类型相关。经过全基因组连锁分析，我们在一个患有常染色体显性舌后非综合征性听力障碍的德系大家庭中，在外显子7的剪接受体位点（c.554-1G>A）发现了一个新的MYO6突变。对血液来源的cDNA分析显示，该突变导致了不同的异常剪接mRNA，预计这些mRNA会严重干扰蛋白质功能。该家族的两名成员分别在53岁和65岁时接受了人工耳蜗植入。在此，我们展示了这个家族的详细临床数据，这些数据表明，对于携带MYO6突变的听力受损个体，人工耳蜗植入有良好效果。
