De Novo Variant in the RPL27 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...

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Bibliographic Details
Published in:Case reports in hematology 2024, Vol.2024 (1), p.6626388
Main Authors: Glass, Joshua, Weston, Julia, Lewanda, Amy Feldman, Majumdar, Suvankar
Format: Article
Language:English
Subjects:
Adenosine
Anemia
Blood
Bone marrow
Case Report
Children & youth
Congenital diseases
Families & family life
Females
Genes
Genetic screening
Genomics
Health aspects
Hemoglobin
Laboratories
Mutation
Pregnancy
Ultrasonic imaging
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Summary: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.
ISSN:2090-6560
2090-6579
DOI:10.1155/2024/6626388