# De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia

## TL;DR

A 10-month-old girl with Diamond-Blackfan anemia was found to have a new genetic variant in the RPL27 gene, which is linked to this rare blood disorder.

## Contribution

This case report presents a second instance of a de novo RPL27 variant in Diamond-Blackfan anemia, supporting its pathogenic role.

## Key findings

- A de novo intronic variant in RPL27 was identified in a patient with Diamond-Blackfan anemia.
- The variant was previously reported in one other DBA case, suggesting a possible causal link.
- The findings support reclassifying RPL27 as likely pathogenic in DBA.

## Abstract

We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the RPL27 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 RPL27-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.