Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by pure red blood cell aplasia, variable congenital anomalies, and a predisposition to cancer. The genes implicated in DBA all encode ribosomal proteins associated with either the small or large ribosome subunits. We report a novel variant of unknown significance in the RPL35Agene (p.R76P) in an Asian male presenting with macrocytic anemia, neutropenia, genitourinary malformations, and growth retardation without significant erythroid hypoplasia in bone marrow. We postulate that this variant is likely pathogenic and contributing to this patient’s DBA phenotype; the variant has never been reported in the general population, it changes a highly conserved amino acid, and is predicted to be deleterious by in silico models, while clinically this patient responded well to steroid treatment.
Diamond-Blackfan anemia, ribosomal protein genes, mutation, RPL35A
How to Cite
Yang, G. & Wang, J. & Martin, B. & Rowsell, E. & Fisher, R., (2017) “A Novel RPL35A Mutation Associated with Diamond-Blackfan Anemia: Report of a Case and Review of the Literature”, Hematopathology 2(2), 69-74.