Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

被引：14

作者：

Dey, R ^{[1
]}

Aral, B ^{[1
]}

Abitbol, M ^{[1
]}

Marsac, C ^{[1
]}

机构：

[1] Fac Med Necker Enfants Malad, Lab CERTO, Paris, France

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 76卷 / 04期

关键词：

pyruvate dehydrogenase complex deficiency; E3-binding protein; PDX1; gene; mutations;

D O I：

10.1016/S1096-7192(02)00104-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in the E3-binding protein component of pyruvate dehydrogenase complex have been demonstrated in a few cases of Leigh syndrome. We report that two mutations previously detected in the E3-binding protein cDNA are the consequence of splice-site mutations. Both involved a single base substitution in the conserved dinucleotides of splice junctions, one leading to skipping of an exon and the other, to activation of a cryptic site. Our findings add to the understanding of molecular basis of E3-binding protein deficiency and indicate yet again the high frequency of splicing mutations in this gene. (C) 2002 Published by Elsevier Science (USA).

引用

页码：344 / 347

页数：4

共 23 条

[1] Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase complex gene on chromosome 11p1, in congenital lactic acidosis [J].