Article
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Human mutation - 1 Mar 2022
Lebaron Simon, O'Donohue Marie-Françoise, Smith Scott C, Engleman Kendra L, Juusola Jane, Safina Nicole P, Thiffault Isabelle, Saunders Carol J, Gleizes Pierre-Emmanuel
Abstract excerpt
Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20 ribosomal protein genes. Here we report an atypical clinical case of DBA associated with a missense variant in RPL8, which encodes RPL8/uL2, a protein of the 60S...
Topics
- Anemia, Diamond-Blackfan
- Humans
- Mutation
- Phenotype
- Ribosomal Proteins
- Ribosomes