Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. Issue 12 (18th December 2003)

• Record Type: Journal Article
• Authors: Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, I; Girardin, E; Hertz-Pannier, L; de Lonlay, P; Rötig, A; Rustin, P; Munnich, A
• Is Part Of: Journal of medical genetics. Volume 40:Issue 12(2003)
• Page Start: 896
• Page End: 899
• Publication Date: 2003-12-18
• Subjects: CT, computed tomography -- MRI, magnetic resonance imaging -- OFC, occipital frontal circumference; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.40.12.896
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and T14487C) and three previously reported mutations (T10191C, T12706C and A13514G) in children with Leigh or Leigh-like encephalopathy. The recurrent mutations consistently involved T→C transitions (p<10 −4 ). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency.