Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
J Med Genet. 2012 Apr;49(4):234-41. doi: 10.1136/jmedgenet-2012-100836.
To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy.
Autozygome was used to highlight candidate genes for direct sequencing in 10 probands, all born to consanguineous parents. Autozygome was also used to filter the variants from exome sequencing of four probands.
In addition to revealing mutations in known mitochondrial genes, the analysis revealed the identification of two novel candidate disease genes: MFF and FARS2, encoding the mitochondrial fission factor and phenylalanyl-tRNA synthetase, respectively.
These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients.
研究自交系分析和外显子组测序在疑似或确诊的线粒体脑肌病患者群体中的应用。
自交系用于突出 10 名先证者候选基因的直接测序，这些先证者均为近亲所生。自交系还用于筛选四名先证者外显子组测序的变异。
除了揭示已知线粒体基因的突变外，该分析还鉴定了两个新的候选疾病基因：编码线粒体分裂因子的 MFF 和编码苯丙氨酸 tRNA 合成酶的 FARS2。
这些发现扩展了线粒体疾病患者中突变的基因谱，并强调了整合基因组方法在这些患者评估中的价值。
