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.

SUBMITTER: Alter BP 

PROVIDER: S-EPMC4102705 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature