De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA

We report the molecular findings in a child presenting with sideroblastic anemia and proximal tubulopathy. Analysis of mitochondrial DNA (mtDNA) from fibroblasts showed the presence of a 3.3-kb single deletion in 50% of the genomes. This mutation is, unlike other previously reported deletions in tub...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2004-07, Vol.19 (7), p.790-793
Main Authors: Solano, Abelardo, Russo, Giovanna, Playán, Ana, Parisi, Maria, DiPietro, Massimo, Scuderi, Antonino, Palumbo, Maddalena, Renis, Marcella, López-Pérez, Manuel J, Andreu, Antoni L, Montoya, Julio
Format: Article
Language:English
Subjects:
Base Sequence
DNA, Mitochondrial - genetics
Fanconi Syndrome - genetics
Humans
Infant
Male
Sequence Deletion
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Summary:We report the molecular findings in a child presenting with sideroblastic anemia and proximal tubulopathy. Analysis of mitochondrial DNA (mtDNA) from fibroblasts showed the presence of a 3.3-kb single deletion in 50% of the genomes. This mutation is, unlike other previously reported deletions in tubulopathy patients, not flanked by direct repeat sequences but by palindrome sequences at the deletion breakpoints, suggesting an unusual mechanism for production of deletion. These findings further expand our knowledge of the syndrome of anemia and tubulopathy due to single deletions of mtDNA.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-004-1473-5