title: De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA.
abstract: 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.
authors.affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013 Zaragoza, Spain.
authors.forename: Abelardo
authors.initials: A
authors.lastname: Solano
authors.forename: Giovanna
authors.initials: G
authors.lastname: Russo
authors.forename: Ana
authors.initials: A
authors.lastname: Playán
authors.forename: Maria
authors.initials: M
authors.lastname: Parisi
authors.forename: Massimo
authors.initials: M
authors.lastname: DiPietro
authors.forename: Antonino
authors.initials: A
authors.lastname: Scuderi
authors.forename: Maddalena
authors.initials: M
authors.lastname: Palumbo
authors.forename: Marcella
authors.initials: M
authors.lastname: Renis
authors.forename: Manuel J
authors.initials: MJ
authors.lastname: López-Pérez
authors.forename: Antoni L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005198:Fanconi Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial