Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

Abstract

Acquisition of a somatic nonsense <i>SAMD9</i> mutation in the cells of the haematopoietic system might revert the cellular growth repression caused by the germline <i>SAMD9</i> mutations (ie, second-site reversion mutations). Unexpected lack of haematological features in the two patients would be explained by the reversion mutations.