Figure 2.

Longitudinal mutations in RPL15 are identified in individuals diagnosed with Diamond-Blackfan anemia (DBA). (A) Clinical evolution of P1-P3 carrying truncating hotspot mutation RPL15 p.Tyr81*. Patient 1 manifested with DBA after birth and after one transfusion achieved spontaneous remission at the age of six months. A relapse occurred five years later and after a short course of steroids the patient attained treatment independence. Patients 2 and 3 had a similar clinical course with hydrops fetalis and prenatal intrauterine transfusions, and achieved treatment independence either spontaneously or after one course of steroids. (B) Sanger sequencing results of the recurring mutation in RPL15 from initial diagnoses as well as post remission. Arrows indicate the inserted A nucleotide. FUP: follow up; BM: bone marrow; PB: peripheral blood; LCL: lymphoblastoid cell lines.