Journal article

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

American Journal of Human Genetics | CELL PRESS | Published : 2014


Awarded by Lung GO Sequencing Project

Awarded by WHI Sequencing Project

Awarded by Broad GO Sequencing Project

Awarded by Seattle GO Sequencing Project

Awarded by Heart GO Sequencing Project

Funding Acknowledgements

We thank C. Zetzer, K. Reed, H. Dahl, and S. White for assisting with complementation and linkage analyses and S. Tregoning, W. Salter, K. Canavan, S. Smith, and W. Hutchison for technical assistance with cell culture, enzyme, and molecular analyses. A. Boneh, M. Nash, A. Mansour, and G. Wise are thanked for referral of affected individuals or clinical review. We thank the subjects and their families for their involvement and V.K. Mootha and S.E. Calvo for their collaboration by sequencing known MitoExorne genes and for helpful discussion. The authors would like to thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010). This work was supported by the Australian National Health and Medical Research Council via Project (M.T.R., D.R.T.) and Program (M.B.) grants, a Career Development Fellowship (M.McK.), a Principal Research Fellowship (D.R.T.), and the Independent Research Institute Infrastructure Support Scheme (M.B., K.R.S.). Other support came from a Melbourne Research Scholarship (S.C.L.), a Future Fellowship from the Australian Research Council (M.B.), a Pratt Foundation scholarship (K.R.S.), the James and Vera Lawson Trust (M.McK.) and the Victorian Government's Operational Infrastructure Support Program (D.R.T., M.McK., M.B., and K.R.S.).