Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
复制标题
对遗传性听力损失患者的主要线粒体 DNA 点突变进行扩展筛查。
DOI：
10.1038/jhg.2012.109
复制
发表时间：
2012
期刊：
影响因子：
3.5
通讯作者：
Tanaka M.
中科院分区：
文献类型：
--
作者：
Kato T;Nishigaki Y;Noguchi Y;Fuku N;Ito T;Mikami E;Kitamura K;Tanaka M.
听力损失（HL）是人类最常见的感觉障碍。许多线粒体疾病患者患有感觉神经性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，表型也会因患者而异。因此，这些特征使得有必要分析遗传性HL患者中的每一个假定突变，但对各种突变的广泛分析是费力的。我们分析了373例疑似遗传性HL患者，通过使用扩展悬浮阵列筛选系统进行主要线粒体DNA（mtDNA）突变，除了先前分析的29种突变外，还可以检测到32种其他mtDNA突变。在本研究中，我们在这373例患者中检测到2种不同的mtDNA突变; 7444 G> A的基因型; MT-TS 1基因7472 insC各1例（0.3%）。由于这两名患者除HL外没有其他临床特征，因此未怀疑其存在mtDNA突变。这种扩展的筛查系统与以前的系统一起，对于综合征型和非综合征型HL的基因诊断和流行病学研究都是有用的。
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.