TO THE EDITOR:

Somatic genetic rescue (SGR) is a rare spontaneous event in Mendelian diseases in which an in vivo genetic somatic mutation occurs in a given cell, conferring selective advantage and partially or totally annulling the effect of a pathogenic germline mutation. This phenomenon is observed in several inherited bone marrow failure syndromes, including Fanconi anemia, telomeropathies,3,4  and Shwachman-Diamond syndrome, and is usually associated with hematopoietic recovery. The molecular mechanisms leading to SGR are variable, from the reversion of the original pathogenic mutation (back mutation) or other site-specific mutations in the affected gene, to compensatory mutations in other genes and structural chromosome changes.

GATA-binding protein-2 (GATA2) is a transcription factor that contains 2 zinc fingers and a nuclear localization signal that binds to W/GATA/R motifs. GATA2 is critical for the development of hematopoietic stem...

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