Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article
PubMed
35871033
DOI
10.1016/j.bcmd.2022.102690
PII: S1079-9796(22)00047-X
Knihovny.cz E-resources
- Keywords
- BCCIP, CRISPR/Cas9, Diamond-Blackfan anemia (DBA), RPS7, Ribosomal stress, Wnt pathway, c-Myc,
- MeSH
- Anemia, Diamond-Blackfan * genetics MeSH
- Erythrocytes metabolism MeSH
- Humans MeSH
- Mutation, Missense MeSH
- Protein Biosynthesis MeSH
- Ribosomal Proteins * genetics MeSH
- Check Tag
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Ribosomal Proteins * MeSH
Diamond-Blackfan anemia (DBA) is predominantly underlined by mutations in genes encoding ribosomal proteins (RP); however, its etiology remains unexplained in approximately 25 % of patients. We previously reported a novel heterozygous RPS7 mutation hg38 chr2:g.3,580,153G > T p.V134F in one female patient and two asymptomatic family members, in whom mild anemia and increased erythrocyte adenosine deaminase (eADA) activity were detected. We observed that altered erythrocyte metabolism and oxidative stress which may negatively affect the lifespan of erythrocytes distinguishes the patient from her asymptomatic family members. Pathogenicity of the RPS7 p.V134F mutation was extensively validated including molecular defects in protein translational activity and ribosomal stress activation in the cellular model of this variant.
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