Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

被引:106
作者
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
机构
[1] Hop Necker Enfants Malad, INSERM, U393, Dept Genet, F-75015 Paris, France
[2] Hop Necker Enfants Malad, Dept Pediat Radiol, F-75015 Paris, France
[3] Hop Univ Geneve, Dept Pediat, CH-1211 Geneva 14, Switzerland
关键词
D O I
10.1136/jmg.40.12.896
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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收藏
页码:896 / 899
页数:4
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