Article
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Haematologica - 1 Jun 2018
Wlodarski Marcin W, Da Costa Lydie, O'Donohue Marie-Françoise, Gastou Marc, Karboul Narjesse, Montel-Lehry Nathalie, Hainmann Ina, Danda Dominika, Szvetnik Amina, Pastor Victor, Paolini Nahuel, di Summa Franca M, Tamary Hannah, Quider Abed Abu, Aspesi Anna, Houtkooper Riekelt H, Leblanc Thierry, Niemeyer Charlotte M, Gleizes Pierre-Emmanuel, MacInnes Alyson W
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with DBA. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3 of 4)...
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