Department of Otolaryngology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
J Hum Genet. 2012 Dec;57(12):772-5. doi: 10.1038/jhg.2012.109. Epub 2012 Sep 13.
Hearing loss (HL) is the most common sensory disorder in humans. Many patients with mitochondrial diseases have sensorineural HL (SNHL). The HL of these patients manifests as a consequence of either syndromic or nonsyndromic mitochondrial diseases. Furthermore, the phenotypes vary among patients even if they are carrying the same mutation. Therefore, these features make it necessary to analyze every presumed mutation in patients with hereditary HL, but the extensive analysis of various mutations is laborious. We analyzed 373 patients with suspected hereditary HL by using an extended suspension-array screening system for major mitochondrial DNA (mtDNA) mutations, which can detect 32 other mtDNA mutations in addition to the previously analyzed 29 mutations. In the present study, we detected 2 different mtDNA mutations among these 373 patients; m.7444G>A in the MT-CO1 gene and m.7472insC in the MT-TS1 gene in 1 patient (0.3%) for each. As these two patients had no clinical features other than HL, they had not been suspected of having mtDNA mutations. This extended screening system together with the previous one is useful for the genetic diagnosis and epidemiological study of both syndromic and nonsyndromic HL.
听力损失（HL）是人类最常见的感觉障碍。许多患有线粒体疾病的患者都有感觉神经性 HL（SNHL）。这些患者的 HL 表现为综合征性或非综合征性线粒体疾病的结果。此外，即使患者携带相同的突变，其表型也存在差异。因此，有必要对遗传性 HL 患者的每一个假定突变进行分析，但广泛分析各种突变是很费力的。我们使用扩展的悬浮阵列筛选系统对 373 名疑似遗传性 HL 患者进行了分析，该系统可以检测除以前分析的 29 种突变外的另外 32 种 mtDNA 突变。在本研究中，我们在这 373 名患者中检测到 2 种不同的 mtDNA 突变；MT-CO1 基因中的 m.7444G>A 和 MT-TS1 基因中的 m.7472insC，每种突变各有 1 名患者（0.3%）。由于这两名患者除 HL 外没有其他临床特征，因此他们没有被怀疑有 mtDNA 突变。这种扩展的筛选系统与以前的系统一起，对于综合征性和非综合征性 HL 的遗传诊断和流行病学研究都是有用的。
