de Beeck Ken Op, Van Laer Lut, Van Camp Guy
Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Ann Otol Rhinol Laryngol. 2012 Mar;121(3):197-207. doi: 10.1177/000348941212100310.
The DFNA5 gene was identified in 1998 as a gene that causes an autosomal dominant form of hearing impairment. Five different DFNA5 mutations have been found; each results in skipping of exon 8 at the messenger RNA level. This finding indicates that DFNA5-associated hearing loss is attributable to a highly specific gain-of-function mutation. Interestingly, later reports revealed that DFNA5 also plays a role in tumor biology.
Recent data have shed more light on the biological function of DFNA5. Through a literature search, the current knowledge of this gene is reviewed.
DFNA5 is the first gene for monogenic deafness that is known to involve apoptosis as a disease mechanism--a mechanism that was shown to be involved in frequent types of hearing loss caused by age, noise, or drugs. In line with its apoptosis-inducing properties, DFNA5 is a tumor suppressor gene with an important role in major types of tumors.
DFNA5 is a tumor suppressor gene that is involved in apoptosis pathways and as such performs a basic role in cell survival. In view of the known role of apoptosis in several forms of hearing loss, DFNA5 may be a player in the underlying disease mechanisms.
DFNA5基因于1998年被鉴定为导致常染色体显性遗传性听力障碍的基因。已发现五种不同的DFNA5突变；每种突变在信使核糖核酸水平上均导致外显子8跳跃。这一发现表明，与DFNA5相关的听力损失归因于一种高度特异性的功能获得性突变。有趣的是，后来的报告显示DFNA5在肿瘤生物学中也发挥作用。
最近的数据进一步揭示了DFNA5的生物学功能。通过文献检索，对该基因的现有知识进行了综述。
DFNA5是首个已知将细胞凋亡作为疾病机制的单基因耳聋基因——这种机制在由年龄、噪音或药物引起的常见听力损失类型中也有涉及。与其诱导细胞凋亡的特性相符，DFNA5是一种肿瘤抑制基因，在主要类型的肿瘤中发挥重要作用。
DFNA5是一种参与细胞凋亡途径的肿瘤抑制基因，因此在细胞存活中发挥着基础作用。鉴于细胞凋亡在多种形式听力损失中的已知作用，DFNA5可能在潜在疾病机制中发挥作用。
