High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

• Published in: Nature genetics Vol. 42; no. 10; pp. 851 - 858
• Main Authors: Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.10.2010; Nature Publishing Group
• Subjects: 631/443/319/1642; Agriculture; Animal Genetics and Genomics; Awards & honors; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Blotting, Western; Cancer Research; Case-Control Studies; DNA sequencing; Electron Transport Complex I - genetics; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Function; Gene mutations; Genetic aspects; Genetic Association Studies; Genetic testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Human Genetics; Human subjects; Humans; Methods; Mitochondrial diseases; Mitochondrial Diseases - genetics; Mitochondrial DNA; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Mutation; Mutation - genetics; Nucleotide sequencing; Project management; Reverse Transcriptase Polymerase Chain Reaction; Risk factors; RNA, Messenger - genetics; Sequence Analysis, DNA; Studies; Australia; Human; Identification; Pool; Mutation; Sequencing; Deficiency

Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency. They identify two genes newly associated with complex I deficiency and are able to provide genetic diagnoses in 22% of their previously unso...