Zhang Chu-Qin, Chen Bo-Bei, Huang Jia-Yun, Sun Dong-Mei, Chen Ying-Ying, Xiang Song-Jie, Guan Min-Xin
Department of Otorhinolsryngology, the Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical College, Wenzhou 325027, China.
Yi Chuan. 2008 Nov;30(11):1406-10. doi: 10.3724/sp.j.1005.2008.01406.
GJB2, SLC26A4 (PDS) and mitochondrial DNA (mtDNA) have been associated with sensorineural hearing loss. In the present study, the clinical, genetic and molecular analysis of 14 cochlear implant recipients and their parents was studied from April 2006 to September 2007. Of the 14 subjects, 35.7% had gene mutations; 28.6% had homozygous GJB2 235delC mutation, whose parents carried heterozygous GJB2 235delC mutation; and 7.1% had mtDNA A1555G mutation, whose mother carried mtDNA A1555G mutation too. There was no SLC26A4 (PDS) mutation. These results strongly suggested that the mutation in GJB2 gene was a major cause of deafness in cochlear implant recipients and the mutation of mtDNA A1555G was another important cause. Genetic test of hot-spots and analysis of family constellation can offer an accurate genetic counseling to deaf family and reduce the incidence of hearing loss.
GJB2、SLC26A4（PDS）和线粒体DNA（mtDNA）已被证实与感音神经性听力损失有关。在本研究中，于2006年4月至2007年9月对14名人工耳蜗植入受者及其父母进行了临床、遗传学和分子分析。在这14名受试者中，35.7%存在基因突变；28.6%有纯合的GJB2 235delC突变，其父母携带杂合的GJB2 235delC突变；7.1%有mtDNA A1555G突变，其母亲也携带mtDNA A1555G突变。未发现SLC26A4（PDS）突变。这些结果有力地表明，GJB2基因突变是人工耳蜗植入受者耳聋的主要原因，而mtDNA A1555G突变是另一个重要原因。热点区域的基因检测和家系分析可为耳聋家庭提供准确的遗传咨询，并降低听力损失的发生率。
