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 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.
Solano
Abelardo
A
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013 Zaragoza, Spain.
Russo
Giovanna
G
Playán
Ana
A
Parisi
Maria
M
DiPietro
Massimo
M
Scuderi
Antonino
A
Palumbo
Maddalena
M
Renis
Marcella
M
López-Pérez
Manuel J
MJ
Andreu
Antoni L
AL
Montoya
Julio
J
D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005198:Fanconi Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D017384:Sequence Deletion
D004272:DNA, Mitochondrial