Related Experiment Video
Updated: Jun 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
Joshua Glass1, Julia Weston2, Amy Feldman Lewanda2
1Center for Cancer and Blood Disorders Children's National Hospital, Washington, DC, USA.
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.
More Related Videos
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Rh Blood Group
Translation
Translation Produces the Building Blocks of Life
Proteins are...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...

