Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

J. Poulton , M. Hirano , A. Spinazzola , M. Arenas Hernandez , C. Jardel , A. Lombès , B. Czermin , R. Horvath , J.W. Taanman , A. Rotig , M. Zeviani , C. Fratter

These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1 because of the existing database (). We have also excluded mutations in associated with dominant adult onset disorders.

Mots clés: TYMP; RRM2B; MPV17; DGUOK; TK2; mtDNA; mtDNA depletion; C10orf2; SUCLG1; SUCLA2

J. Poulton, M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, et al.. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochimica et Biophysica Acta - Molecular Basis of Disease, 2009, 1792 (12), pp.1109. ⟨10.1016/j.bbadis.2009.08.016⟩. ⟨hal-00537254⟩