Implications of revertant somatic mosaicism in bone marrow failure syndromes

We present examples of RM of haematopoietic cells in the context of inherited BMF syndromes with dramatically different clinical outcomes. Diamond Blackfan Anaemia (DBA) is an inherited BMF disorder caused by mutations/deletions in ribosomal proteins. We have a 9 year old male who required regular transfusions until he became transfusion independent at age 4. We identified a 184kb deletion on chromosome 12 encompassing 11 genes including RPS26 (known DBA gene).

Source: Experimental Hematology - July 31, 2019 Category: Hematology Authors: Parvathy Venugopal, Milena Babic, Christopher Barnett, Sarah Bray, Anna Brown, Jesse Cheah, Richard D'Andrea, Jinghua Feng, Miriam Fine, Amee George, Michael Guandalini, Christopher Hahn, Ross Hannan, David Lawrence, Sarah Moore, Kerry Philips, Nicola Pop Tags: 3141 Source Type: research