Yoshikawa Satoko, Kawano Atsushi, Hayashi Chieri, Nishiyama Nobuhiro, Kawaguchi Sachie, Furuse Hiroko, Ikeda Katsuhisa, Suzuki Mamoru, Nakagawa Masahumi
The Open University of Japan, Japan.
Auris Nasus Larynx. 2011 Aug;38(4):444-9. doi: 10.1016/j.anl.2010.11.012. Epub 2011 Feb 2.
This study aimed to investigate the prevalence of GJB2 gene for the 235delC mutations, the clinical features and the outcomes of patients who had undergone cochlear implantation.
We have sequenced the coding region of GJB2 gene for 135 patients with sensorineural deaf from September 2000 to May 2009. Of the 135 patients, the patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E were detected and were investigated clinically.
The GJB2 gene for the 235delC mutations was found in 39 alleles of 270 alleles (14.4%), especially for the homozygous of 235delC was detected in 26 alleles (9.6%), the single heterozygous of 235delC was 1 allele (0.4%), the compound heterozygous of 235delC was found in 12 alleles (4.4%). Of 16 subjects (29 alleles) with the homozygous 235delC and the compound-heterozygous Y136X/G45E, 2 subjects (4 alleles) were found to have complications. All of the subjects were found to show severe hearing loss and some of them have indicated progressive hearing loss. However, they showed better performance regarding the thresholds after implantation. The subjects with complications, although, suggested poorer performance in the auditory speech performance.
The findings of poorer outcomes might depend on complications and brain functions. In addition, considering the blood test parameters, an independent elevated LDH and ChE at diagnosis were found to be associated with hereditary enzyme's metabolic disease. Therefore, the value of LDH measurements in patients might be a helpful predictive parameter in hereditary diseases.
本研究旨在调查GJB2基因235delC突变的患病率、临床特征以及接受人工耳蜗植入患者的治疗结果。
我们对2000年9月至2009年5月期间的135例感音神经性聋患者的GJB2基因编码区进行了测序。在这135例患者中，检测出纯合235delC和复合杂合Y136X/G45E的患者，并对其进行了临床研究。
在270个等位基因中发现39个等位基因存在GJB2基因235delC突变（14.4%），其中纯合235delC在26个等位基因中被检测到（9.6%），235delC单杂合为1个等位基因（0.4%），235delC复合杂合在12个等位基因中被发现（4.4%）。在16例（29个等位基因）纯合235delC和复合杂合Y136X/G45E的受试者中，发现2例（4个等位基因）有并发症。所有受试者均表现为重度听力损失，部分受试者有渐进性听力损失。然而，他们在植入后的阈值方面表现较好。不过，有并发症的受试者在听觉言语表现方面较差。
较差的治疗结果可能取决于并发症和脑功能。此外，考虑血液检测参数，诊断时独立升高的乳酸脱氢酶（LDH）和胆碱酯酶（ChE）与遗传性酶代谢疾病有关。因此，患者中LDH测量值可能是遗传性疾病的一个有用预测参数。
