Abstract：
: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.
journal_name
Bloodjournal_title
Bloodauthors
Vlachos A,Farrar JE,Atsidaftos E,Muir E,Narla A,Markello TC,Singh SA,Landowski M,Gazda HT,Blanc L,Liu JM,Ellis SR,Arceci RJ,Ebert BL,Bodine DM,Lipton JMdoi
10.1182/blood-2013-06-509935subject
Has Abstractpub_date
2013-10-03 00:00:00pages
2487-90issue
14eissn
0006-4971issn
1528-0020pii
blood-2013-06-509935journal_volume
122pub_type
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