RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

doi:10.1016/j.gim.2024.101266

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Article

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Vanlerberghe Clémence, Frénois Frédéric, Smol Thomas, Jourdain Anne-Sophie, Escande Fabienne, Aït-Yahya Emilie, Aldeeri Abdulrahman A, Yu Timothy W, Cormier-Daire Valérie, Ghoumid Jamal, Jacob Maureen, Newbury-Ecob Ruth, Manouvrier Sylvie, Platon Jessica, Sailer Sebastian, Brunelle Perrine, Da Costa Lydie, Petit Florence

Abstract excerpt

PURPOSE: Diamond-Blackfan anemia syndrome (DBS) is a rare congenital disorder originally characterized by bone marrow failure with or without various congenital anomalies. At least 24 genes are implicated, the vast majority encoding for ribosomal proteins. RPL26 (ribosomal protein L26) is an emerging candidate (DBA11, MIM#614900). We aim to further delineate this rare condition. METHODS: Patients carrying...

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PMID: 39268718
DOI: 10.1016/j.gim.2024.101266

Genes

RPL26
CD34

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