Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Hans Matsson, Joakim Klar, Natalia Draptchinskaia, Peter Gustavsson, Birgit Carlsson, Daniel Bowers, Eveline De Bont, Niklas Dahl

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

Diamond-Blackfan anemia (DBA) is a rare constitutional erythroblastopenia characterized by a specific defect in erythroid differentiation. Recently, mutations in the gene encoding ribosomal protein (RP) S19 were found in a subset of patients with the disease. To characterize further RPS19 mutations and to investigate genotype-phenotype relationships, we screened this gene for mutations in patients with DBA by direct sequencing and Southern-blot analysis. Four novel mutations were identified. A G120A nonsense mutation resulting in a stop at codon 33, a C302T nonsense mutation introducing a premature stop at codon 84, and a 327delG which results in a frame shift at codon 103. A fourth and more complex mutation (TT157-158AA, 160insCT) resulting in a Leu45Gln and a frame shift from codon 47 was found in three affected family members with variable phenotypes. The different clinical expression for identical mutations suggest the presence of other modulating factors for the disease. The mutations presented here further support the role of RPS19 in erythropoietic differentiation and proliferation.

Original languageEnglish (US)
Pages (from-to)496-500
Number of pages5
JournalHuman genetics
Volume105
Issue number5
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Matsson, H., Klar, J., Draptchinskaia, N., Gustavsson, P., Carlsson, B., Bowers, D., De Bont, E., & Dahl, N. (1999). Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. Human genetics, 105(5), 496-500. https://doi.org/10.1007/s004399900165