Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.

ABSTRACT: Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been identified in 12 ribosomal protein genes in approximately 60% of DBA cases, with the genetic etiology unexplained in most remaining patients. Unlike many IBMFS, for which functional screening assays complement clinical and genetic findings, suspected DBA in the absence of typical alterations of the known genes must frequently be diagnosed after exclusion of other IBMFS. We report here a novel deletion in a child that presented such a diagnostic challenge and prompted development of a novel functional assay tha

SUBMITTER: Farrar JE 

PROVIDER: S-EPMC4332597 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature