Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome

Blood. 2013 Oct 3;122(14):2487-90. doi: 10.1182/blood-2013-06-509935. Epub 2013 Aug 13.


Classical 5q- syndrome is an acquired macrocytic anemia of the elderly. Similar to Diamond Blackfan anemia (DBA), an inherited red cell aplasia, the bone marrow is characterized by a paucity of erythroid precursors. RPS14 deletions in combination with other deletions in the region have been implicated as causative of the 5q- syndrome phenotype. We asked whether smaller, less easily detectable deletions could account for a syndrome with a modified phenotype. We employed single-nucleotide polymorphism array genotyping to identify small deletions in patients diagnosed with DBA and other anemias lacking molecular diagnoses. Diminutive mosaic deletions involving RPS14 were identified in a 5-year-old patient with nonclassical DBA and in a 17-year-old patient with myelodysplastic syndrome. Patients with nonclassical DBA and other hypoproliferative anemias may have somatically acquired 5q deletions with RPS14 haploinsufficiency not identified by fluorescence in situ hybridization or cytogenetic testing, thus refining the spectrum of disorders with 5q- deletions.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Diamond-Blackfan / diagnosis
  • Anemia, Diamond-Blackfan / genetics*
  • Anemia, Macrocytic / diagnosis
  • Anemia, Macrocytic / drug therapy
  • Anemia, Macrocytic / genetics*
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics
  • Cytogenetic Analysis / methods*
  • Female
  • Genotype
  • Humans
  • Immunologic Factors / therapeutic use
  • Lenalidomide
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Real-Time Polymerase Chain Reaction
  • Ribosomal Proteins / genetics*
  • Thalidomide / analogs & derivatives
  • Thalidomide / therapeutic use


  • Immunologic Factors
  • RPS14 protein, human
  • Ribosomal Proteins
  • Thalidomide
  • Lenalidomide

Supplementary concepts

  • Chromosome 5q Deletion Syndrome