HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.

doi:10.1182/blood.2021011846

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Article

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.

Blood - 26 May 2022

O'Donohue Marie-Françoise, Da Costa Lydie, Lezzerini Marco, Unal Sule, Joret Clément, Bartels Marije, Brilstra Eva, Scheijde-Vermeulen Marijn, Wacheul Ludivine, De Keersmaecker Kim, Vereecke Stijn, Labarque Veerle, Saby Manon, Lefevre Sophie D, Platon Jessica, Montel-Lehry Nathalie, Laugero Nathalie, Lacazette Eric, van Gassen Koen, Houtkooper Riekelt H, Simsek-Kiper Pelin Ozlem, Leblanc Thierry, Yarali Nese, Cetinkaya Arda, Akarsu Nurten A, Gleizes Pierre-Emmanuel, Lafontaine Denis L J, MacInnes Alyson W

Abstract excerpt

The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. These variants destabilize a protein whose yeast...

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Identifiers

PMID: 35213692
DOI: 10.1182/blood.2021011846
PMCID: PMC9136880

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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