Miyagawa Maiko, Nishio Shin-Ya, Kumakawa Kozo, Usami Shin-Ichi
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Otorhinolaryngology, Toranomon Hospital, Tokyo, Japan.
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:148S-57S. doi: 10.1177/0003489415575055.
To elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing loss patients through the use of genetic analysis.
Genomic variations responsible for hearing loss were identified by massively parallel DNA sequencing (MPS) of 63 target candidate genes in 1120 Japanese hearing loss patients, and the detailed clinical features for the patients with MYO6 mutations were collected and analyzed.
Four mutations were successfully found in 7 families exhibiting autosomal dominant inheritance. All of the patients showed progressive hearing loss, but hearing type and onset age varied. Further, none of the affected patients showed any associated symptoms, such as hypertrophic cardiomyopathy or retinitis pigmentosa.
MPS is powerful tool for the identification of rare causative deafness gene mutations, such as MYO6. The clinical characteristics noted in the present study not only confirmed the findings of previous reports but provided important new clinical information.
通过基因分析阐明已知导致DFNA22/DFNB37的MYO6突变在日本听力损失患者中的作用。
通过对1120例日本听力损失患者的63个目标候选基因进行大规模平行DNA测序（MPS），确定导致听力损失的基因组变异，并收集和分析具有MYO6突变患者的详细临床特征。
在7个表现为常染色体显性遗传的家族中成功发现了4种突变。所有患者均表现为进行性听力损失，但听力类型和发病年龄各不相同。此外，所有受影响患者均未表现出任何相关症状，如肥厚型心肌病或视网膜色素变性。
MPS是鉴定罕见致聋基因突变（如MYO6）的有力工具。本研究中指出的临床特征不仅证实了先前报告的结果，还提供了重要的新临床信息。
