Variant in the Gene in a Second Infant with Diamond-Blackfan Anemia.

We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a intronic variant in (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the gene encodes for a ribosomal protein involved in pre-rRNA processing and erythropoiesis. Further research is needed to assess the functional significance of this variant and its implications for genetic testing and therapeutic strategies. This case expands the clinical spectrum of -associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.