title: Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.
abstract: Pearson syndrome is a multisystem juvenile condition associated with deletions in the mitochondrial genome. The most common 4977 bp deletion of mitochondrial DNA (mtDNA) can mainly be detected in the patients' peripheral blood. Here we report a child with a clinically unclarified diagnosis where molecular genetic results proved Pearson syndrome from stored dried blood sample 6 months after the patient's death. PCR amplification around the breakpoint of the most common mtDNA deletion could detect the presence of mutated mtDNA. Another polymerase chain reaction (PCR) assay indicated the low level of wild type mtDNA in patients' blood. We believe that this case shows the importance of storing Guthrie card and the availability of detection of Pearson syndrome from dried blood sample.
authors.affiliation: I. Department of Obstetrics and Gynaecology, Semmelweis University Medical School, Budapest, Hungary. toma@noi1.sote.hu
authors.forename: T
authors.initials: T
authors.lastname: Tóth
authors.forename: J
authors.initials: J
authors.lastname: Bókay
authors.forename: L
authors.initials: L
authors.lastname: Szönyi
authors.forename: B
authors.initials: B
authors.lastname: Nagy
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
mesh_terms: D000756:Anemia, Sideroblastic / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial