title: Pearson syndrome in a Diamond-Blackfan anemia cohort.
abstract: In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation.
authors.affiliation: NATIONAL CANCER INSTITUTE.
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain