Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemiaClinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

Edoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca, Orsetta Zuffardi

Research output: Contribution to journalArticle

Abstract

Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations. Remarkably, the RPL5 c.482del frameshift mutation has never been reported before, whereas the RPS19 c.3G > T missense mutation, although previously described in a 2-month-old DBA patient without malformations and refractory to steroid therapy, was detected here in the mosaic state in different bodily tissues for the first time in DBA patients.

Original languageEnglish
Pages (from-to)38-44
Number of pages7
JournalBlood Cells, Molecules, and Diseases
Volume64
DOIs
Publication statusPublished - May 1 2017

Keywords

  • Diamond-Blackfan anemia
  • Inherited bone marrow failure syndromes
  • Mosaicism
  • RPL5
  • RPS19
  • Whole exome sequencing

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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