Mutation analysis of XXXX by targeted capture sequencing.

@entity1 @entity9472 @entity71829 @entity2764 @entity417 @entity71832 @entity71830 @entity1503 @entity37423 @entity71831 @entity74 @entity5361 @entity5985 @entity1446
BACKGROUND: @entity417 ( @entity417 ) comprise a group of heterogenous @entity74 that are caused by the mutation of various genes involved in @entity1446 biosynthesis, @entity5985 cluster biogenesis, or mitochondrial solute transport or metabolism. However, approximately 40% of @entity1 with CSA have not been found to have pathogenic gene mutations. In this study, we systematically analyzed the mutation profile in 10 Chinese @entity1 with sporadic CSA. FINDINGS: We performed targeted deep sequencing analysis in ten @entity1 with CSA using a panel of 417 genes that included known @entity9472 -related genes. Mitochondrial genomes were analyzed using next-generation sequencing with a mitochondria enrichment kit and the HiSeq2000 sequencing platform. The results were confirmed by Sanger sequencing. The @entity37423 mutation was detected in one @entity1 . @entity5361 mutations were detected in three @entity1 , including three novel mutations. Mitochondrial DNA deletions were detected in two @entity1 . No disease-causing mutations were detected in four @entity1 . CONCLUSION: To our knowledge, the @entity2764 -effective mutation @entity71829 of @entity37423 , the compound heterozygous mutation @entity71830 , @entity71831 , and the homozygous mutation @entity71832 of @entity5361 were found for the first time. Our findings add to the number of reported cases of this rare disease and to the CSA pathogenic mutation database. Our findings expand the phenotypic profile of mitochondrial DNA deletion mutations. This work also demonstrates the application of a @entity1503 assay and targeted capture sequencing for the genetic screening analysis and diagnosis of heterogenous genetic CSA.
